International Journal of Pediatric Otorhinolaryngology, 19 (1990) 265-271 Elsevier
265
PEDOT 00647
Ectodermal dysplasia: the otolaryngologic manifestations and management * Michael B. Siegel ’ and William P. Potsic 2 ’ Department of Otolatyngology, Hospital of the University of Pennsylvania, Philadelphia, PA I91 04 (U.S.A.) and 2 Departmknt of Otolatyngologv, Children’s Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA 19104 (U.S.A.) (Received 3 July 1989) (Revised version received 28 December 1989) (Accepted 7 February 1990)
Key words: Ectodermal dysplasia; Anhidrotic; Otolaryngology
Abstract
Ectodermal dysplasia is a rare group of diseases presenting special problems in management for the otolaryngologist, but the full spectrum of otorhinolaryngologic manifestations has been previously unrecognized in the otolaryngologic literature. The anhidrotic form, characterized by deficient sweating, sparse hair growth and deficient teeth, with associated decreased mucous production in the aerodigestive tract leads to chronic upper respiratory tract infections, otitis, dysphagia, hoarseness, bronchitis and sometimes hemoptysis.
Introduction
The term hereditary ectodermal dysplasia (ECD) refers to a group of inherited diseases in which ectodermal tissues or derivatives are absent or poorly developed. The term is somewhat of a misnomer because some mesodermal derivatives are also dysplastic in most cases. It is a rare condition occurring in an estimated 1 per 100,000 live births according to Stevensen and Kerr [9]. Two major forms are
* This paper was presented at the American Society of Pediatric Otolaryngology annual meeting on May 18, 1989. Correspondence: M.B. Siegel, Dept. of Otolaryngology, Hospital of the University of Pennsylvania, 3400 Spruce St,, Philadelphia, PA 19104, U.S.A. 0165-5876/90/$03.50
0 1990 Elsevier Science Publishers B.V. (Biomedical Division)
266
recognized: the hidrotic type and the more common anhidrotic or hypohidrotic type. The hypohidrotic form originally referred to as the anhidrotic form is characterized by a triad of sparse hair growth, deficient teeth and deficient sweating. This form is also associated with decreased mucus production in the aerodigestive tract. The different modes of inheritance, different associated anomalies and the presence or absence of sweating, clearly differentiate these two forms. Our case illustrates the anhidrotic form which presents a more relevant discussion for the otolaryngologist.
Case report J.M. was a 2-month-old white male, the product of a normal full-term delivery. He presented to the otolaryngology department after being referred by his pediatrician for recurrent acute otitis media and severe nasal crusting with nasal obstruction. The nasal obstruction was associated with a foul odor, feeding difficulty and frequent snorting. At birth the patient was noted to have increased scaling and dryness of the skin. The child’s medical history was notable for frequent temperature elevations to 102°F recorded by the mother. The pediatrician found no apparent source of the fever. Each episode of acute otitis media resolved quickly with amoxicillin. Family history showed no evidence of ectodermal dysplasia in the child’s mother. She had normal hair, dentition, sweating pattern, nails and hearing level. The maternal grandmother had sparse hair growth, with normal dentition, sweating pattern, nails and hearing level. Physical examination revealed a patient with frontal bossing, complete nasal obstruction secondary to inspisated mucus, and bilateral cerumen impaction in the external auditory canals. Bilateral serous otitis media was noted after the cerumen impaction was cleared. The oral cavity and oral pharynx were notable for dry mucous membranes. The external auditory canals as well as facial skin were very dry and desquamating. There was sparse hair growth, and dentition had not yet erupted, both of which are normal findings in a patient at two months of age. The nails were normal in size, shape and texture. Sound field audiometry revealed decreased hearing with startle to speech first noted at 75 dB. Lateral neck radiographs obtained to assess the size of the adenoid pad, revealed scant adenoids but more importantly, the absence of tooth buds was recognized. Sweat test was obtained and revealed a decreased sweating response to heat challenge. The patient was started on a regimen of low dose amoxicillin, and given Debrox drops to avoid accumulation of cerumen in the ear canals. Vaseline was applied to the nasal septum and vestibule twice daily. Dermatology consultation and genetics evaluation were arranged to assist with a diagnosis of anhidrotic ectodermal dysplasia. After 4 weeks of therapy the serous otitis media persisted as did the nasal crusting with obstruction. The patient underwent bilateral myringotomy with placement of ventilating tubes, and examination of the nasal cavity with removal of
261
crusts under general anesthesia. Audiologic evaluation one month following the placement of the ventilation tubes revealed normal hearing level, and tympanometry was consistent with patent tubes. The patient’s diagnosis was placed within the group of anhidrotic ectodermal dysplasias based on the clinicial findings including decreased sweating and radiographic evidence of the lack of tooth buds. In addition, as the child reached 9 months of age his hair remained sparse. The patient’s nails and hearing were normal, allowing us to create a differential diagnosis based on the classification developed by Freire-Maia [4]. The ChristSiemens-Touraine (CST) syndrome, autosomal recessive hypohidrotic ectodermal dysplasia and Lenz-Passarge’s dysplasia are included in this differential diagnosis. Because of the extreme rarity of the last two diagnoses listed, the patient’s diagnosis was felt to be most consistent with CST syndrome and therefore transmitted in the X-linked recessive pattern. While the serous otitis resolved with the ventilating tubes, the nasal crusting persisted. Trials of Mucomist and expectorants were unsuccessful. Seven months later, the ventilating tubes spontaneously extruded and recurrence of serous otitis media was noted. The patient was brought back to the operating room for replacement of the ventilating tubes and again nasal crusts were removed. Gentamicin ophthalmic drops were placed in the nasal cavity daily postoperatively in an attempt to decrease the foul odor in the nose. This was partially successful and crusts returned in 3 weeks. The odor returned to a lesser degree when nasal irrigation with saline drops was alternated with gentamicin drops.
History Thurnman [lo] in 1848 described the first patient with the triad of deficient sweating, sparse hair growth and deficient teeth. The term ‘congenital ectodermal defect’ was brought into use in 1913 by Christ, according to Goeckerman [6]. In 1928 Weech [12] coined the term ‘hereditary ectodermal dysplasia’ and subtyped these diseases into the hidrotic and anhidrotic forms. In the early 1900’s the etiology of the syndrome was thought to be similar to congenital syphilis because of the superficial resemblance of the facies in these two disorders. The genetic transmission of anhidrotic ECD was worked out within the last 60 years. This disorder is also credited with furthering our knowledge about the role of sweating in thermoregulation. The mode of inheritance of the group of anhidrotic ectodermal dysplastics is an X-linked recessive pattern in the majority of cases, as is shown in the series by Cockayne [3] in 1933. With this pattern, males present with the clinical triad whereas females with the trait are carriers, and present with a minor syndrome. This lesser expression of the trait can be detected by physical examination in up to 70% of patients as stated in Clarke’s [2] article. It is possible to recognize female carriers by subtle dental deformations, fine hair, and decreased number of sweat pores in the palms and fingers. A minority of cases present an autosomal recessive mode of
268
inheritance. Rapp and Hodgkin [8] reported in 1968 on anhidrotic ECD associated with cleft lip and palate and transmitted via an autosomal dominant mode. This has become known as the Rapp-Hodgkin type. These patients also lack certain characteristics of the facies seen in anhidrotic ECD.
Clinical presentation The syndrome of anhidrotic ECD is frequently not diagnosed in early infancy because of the lack of physical findings. Oligodontia and hypotrichosis are normal findings for this age group. Infants will present with high fevers, recurrent otitis media, nasal obstruction or dysphagia. Frequently these symptoms will occur sporadically and will not be present on the office examination. The nasal obstruction described, rarely causes significant airway compromise. Less commonly, these children will present with a chronic hoarse cry, or chronic cerumen impaction. Capitanio [l] presents the rare case of an infant presenting with a severe pneumonia from which he quickly succumbed. The older children describe heat intolerance with dyspnea on exertion, chronic sore throat with dry mouth, hoarseness, and nasal obstruction with the decreased ability to taste food. The most common complaint however is dissatisfaction with their physical appearance. Hemoptysis, epistaxis or allergic symptoms are less common presenting complaints. These symptoms are greatly aggravated by the presence of family members smoking in the household. These older children are more easily diagnosed by their dry smooth skin, papular malar rash, sparse lightly pigmented hair, anodontia and dry mucous membranes. If several teeth are present they are all conically shaped. They also have a characteristic facies which appears small because of defects including frontal bossing, prominent supraorbital ridges and flattened nasal dorsum with subtle saddle-nose deformity. Rhinoscopy commonly reveals a greatly expanded nasal cavity with extraordinary atrophy of the inferior and middle turbinates. The thick protruding lower lip in contrast to the thin upper lip is referred to as pseudoprognathism. Patients with ECD have been reported living well into their fifth decade of life. It does not appear that these patients have a common mechanism for their demise. A formal life-expectancy has not been suggested in the literature.
Pathophysiology It has been postulated that the scant mucus production in the mucous membranes of the aerodigestive tract caused by a decreased number of mucus secreting glands, leads to dry mucus membranes. The dry mucous membranes without the protective layer of mucous lead to frequent URIS, pharyngitis, laryngitis and bronchitis. The secondary effect is nasal crusting with obstruction of the nasal airway, epistaxis, hemoptysis and dysphagia. In addition, mucus plugging of the tracheobronchial tree and lethal pneumonias secondary to staphylococcus can
269
occur. Decreased saliva production caused by poorly functioning salivary glands has been suggested in several articles including Clarke’s [2], although histological proof is lacking. The chronic inflammation of the pharyngeal mucous membrane probably plays a role in the development of chronic serous otitis media. Patients with ECD were also found to have a statistically significant increased prevalence of extrinsic bronchial asthma and allergic rhinitis, according to Vanselow [ll]. The proposed mechanism is the lack of mucus which allows for less antigenic destruction and therefore greater allergen exposure. The high fevers and heat intolerance are secondary to the inability to lose heat by sweating. These children become febrile quickly when in hot environments including the testing environment during sweat testing. This hyperpyrexia may have led to mental retardation in some of the earlier reported cases. Mental retardation does not appear in any of the later reported cases and does not appear to be an inherited defect. It now appears that these children have the ability to attain normal mental function.
Histology
Autopsy and biopsy specimens are reported in the literature. Thurnman’s [lo] original patient was shown to have deficient ectodermal elements including deficient pigment in the epidermis as well as the absence of sweat and pilosebaceous glands. In 1968 Capitanio et al. [l] showed the absence of seromucinous glands in multiple sections of the larynx, trachea and bronchi, although some goblet cells were present. In the oral mucous membranes there was also an absence of seromucinous glands. Histopathology of the nasal mucosa revealed that the ciliated epithelium had undergone metaplasia to squamous epithelium according to Gil-Carcedo [5]. In addition, the number of goblet cells was markedly reduced. The papular lesions on the face represent large superficially placed, degenerated sebaceous glands together with hyperkeratotic dilated follicular orifices and surrounding acanthosis.
The treatment of serous otitis media is usually surgical because of the unremitting nature of this disease. Removal of nasal crusts under general anesthesia appears to be necessary to allow saline irrigation to be most effective. Gentamicin drops appear to be effective in decreasing the nasal odor, especially when alternated with saline irrigation. It is most important to relieve the nasal obstruction in infants, because they are obligate nasal breathers. Cerumen impaction can be treated with routine visits for cerumen disimpaction and peroxide solution weekly to keep cerumen moist and avoid accumulation. It is
270
important to initiate therapy for serous otitis media and cerumen impaction early to stabilize hearing and prevent infection. As mentioned in Clarke’s article [2] it is important to fit the child early with dentures to improve articulation, appearance and nutrition. Appearance can also be improved by rhinoplasty to augment the flattened nasal dorsum, as advocated by Lipschutz 171. This may be accomplished best in the teenage years when the majority of nasal growth has been completed. Pediatric, genetic and dermatologic consultation are essential in providing the total care of these patients. Genetic counselling will aid parents and siblings in planning their families. These patients must also be counseled with regard to the type of employment they should avoid, such as construction work. In this type of work, dust and small particles of wood and metal can cause irritation to the mucous lining of the aerodigestive tract and increase the rate of infectious complications. Likewise these patients should also avoid smoking which may be particularly irritating.
Conclusion Anhidrotic ECD is a rare group of disorders that may present with many of the most common symptoms seen in the head and neck area. The pediatric otolaryngologist is often consulted because of the chronicity of these symptoms. It is only with a knowledge of these disorders that the patient with anhidrotic ECD can be identified. A history of unexplained fevers and intolerance to heat is uniformly present in these patients. Physical findings including dry mucous membranes, dry skin, thick nasal crusts, sparse hair and lack of teeth should make one suspicious of the diagnosis. Radiographs confirming the absence of tooth buds in the infant along with a sweat test notable for an absent or decreased sweating reponse to heat confirms the diagnosis.
References 1 Capitanio, M.A., Chen, J.T.T., Arey, J.B. and Kirkpatrick, J.A., Congenital anhidrotic ectodermal dysplasia, Am. J. Roentgenol., 103 (1968) 168-172. 2 Clarke, A., Hypohidrotic ectodermal dysplasia, J. Med. Genet., 24 (1987) 659-663. 3 Cockayne, E.A., Inherited Abnormalities of the Skin and its Appendages, Oxford University Press, London, 1933. 4 Freire-Maia, N. and Pinheiro, M., Ectodermal Dysplasias: A Clinical and Genetic Study, Alan R. Liss, New York, 1984. 5 Gil-Carcedo, L.M., The nose in anhidrotic ectodermal dysplasia, Rhinology, 20 (1982) 231-235. 6 Goeckerman, W.H., Congenital ectodermal defect, with report of a case, Arch. Dermatol. Syph., 1 (1920) 396-412. 7 Lipschutz, H., Anhidrotic Ectodermal Dysplasia, J. Albert Einstein Med. Center, 11 (1963) 33-35. 8 Rapp, R.S. and Hodgkin, W.E., Anhidrotic ectodermal dysplasia: Autosomal dominant inheritance with palate and lip anomalies, J. Med. Genet., 5 (1968) 269-272.
211
9 Stevenson, A.C. and Kerr, C.B., On the distributions of frequencies of mutation to genes determining harmful traits in man, Mutat. Res., 4 (1967) 339-352. 10 Thumman, J., Two cases in which the skin, hair and teeth were very imperfectly developed, Proc. R. Med. Chir. Sot., 71 (1848) 71-81. 11 Vanselow, N. et al., The increased prevalence of allergic disease in anhidrotic congenital ectodermal dysplasia, J. Allergy, 45 (1970) 302-309. 12 Weech, A.A., Hereditary ectodennal dysplasia (congenital ectodermal defect), Am. J. Dis. Child., 37 (1929) 766-790.
265
PEDOT 00647
Ectodermal dysplasia: the otolaryngologic manifestations and management * Michael B. Siegel ’ and William P. Potsic 2 ’ Department of Otolatyngology, Hospital of the University of Pennsylvania, Philadelphia, PA I91 04 (U.S.A.) and 2 Departmknt of Otolatyngologv, Children’s Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA 19104 (U.S.A.) (Received 3 July 1989) (Revised version received 28 December 1989) (Accepted 7 February 1990)
Key words: Ectodermal dysplasia; Anhidrotic; Otolaryngology
Abstract
Ectodermal dysplasia is a rare group of diseases presenting special problems in management for the otolaryngologist, but the full spectrum of otorhinolaryngologic manifestations has been previously unrecognized in the otolaryngologic literature. The anhidrotic form, characterized by deficient sweating, sparse hair growth and deficient teeth, with associated decreased mucous production in the aerodigestive tract leads to chronic upper respiratory tract infections, otitis, dysphagia, hoarseness, bronchitis and sometimes hemoptysis.
Introduction
The term hereditary ectodermal dysplasia (ECD) refers to a group of inherited diseases in which ectodermal tissues or derivatives are absent or poorly developed. The term is somewhat of a misnomer because some mesodermal derivatives are also dysplastic in most cases. It is a rare condition occurring in an estimated 1 per 100,000 live births according to Stevensen and Kerr [9]. Two major forms are
* This paper was presented at the American Society of Pediatric Otolaryngology annual meeting on May 18, 1989. Correspondence: M.B. Siegel, Dept. of Otolaryngology, Hospital of the University of Pennsylvania, 3400 Spruce St,, Philadelphia, PA 19104, U.S.A. 0165-5876/90/$03.50
0 1990 Elsevier Science Publishers B.V. (Biomedical Division)
266
recognized: the hidrotic type and the more common anhidrotic or hypohidrotic type. The hypohidrotic form originally referred to as the anhidrotic form is characterized by a triad of sparse hair growth, deficient teeth and deficient sweating. This form is also associated with decreased mucus production in the aerodigestive tract. The different modes of inheritance, different associated anomalies and the presence or absence of sweating, clearly differentiate these two forms. Our case illustrates the anhidrotic form which presents a more relevant discussion for the otolaryngologist.
Case report J.M. was a 2-month-old white male, the product of a normal full-term delivery. He presented to the otolaryngology department after being referred by his pediatrician for recurrent acute otitis media and severe nasal crusting with nasal obstruction. The nasal obstruction was associated with a foul odor, feeding difficulty and frequent snorting. At birth the patient was noted to have increased scaling and dryness of the skin. The child’s medical history was notable for frequent temperature elevations to 102°F recorded by the mother. The pediatrician found no apparent source of the fever. Each episode of acute otitis media resolved quickly with amoxicillin. Family history showed no evidence of ectodermal dysplasia in the child’s mother. She had normal hair, dentition, sweating pattern, nails and hearing level. The maternal grandmother had sparse hair growth, with normal dentition, sweating pattern, nails and hearing level. Physical examination revealed a patient with frontal bossing, complete nasal obstruction secondary to inspisated mucus, and bilateral cerumen impaction in the external auditory canals. Bilateral serous otitis media was noted after the cerumen impaction was cleared. The oral cavity and oral pharynx were notable for dry mucous membranes. The external auditory canals as well as facial skin were very dry and desquamating. There was sparse hair growth, and dentition had not yet erupted, both of which are normal findings in a patient at two months of age. The nails were normal in size, shape and texture. Sound field audiometry revealed decreased hearing with startle to speech first noted at 75 dB. Lateral neck radiographs obtained to assess the size of the adenoid pad, revealed scant adenoids but more importantly, the absence of tooth buds was recognized. Sweat test was obtained and revealed a decreased sweating response to heat challenge. The patient was started on a regimen of low dose amoxicillin, and given Debrox drops to avoid accumulation of cerumen in the ear canals. Vaseline was applied to the nasal septum and vestibule twice daily. Dermatology consultation and genetics evaluation were arranged to assist with a diagnosis of anhidrotic ectodermal dysplasia. After 4 weeks of therapy the serous otitis media persisted as did the nasal crusting with obstruction. The patient underwent bilateral myringotomy with placement of ventilating tubes, and examination of the nasal cavity with removal of
261
crusts under general anesthesia. Audiologic evaluation one month following the placement of the ventilation tubes revealed normal hearing level, and tympanometry was consistent with patent tubes. The patient’s diagnosis was placed within the group of anhidrotic ectodermal dysplasias based on the clinicial findings including decreased sweating and radiographic evidence of the lack of tooth buds. In addition, as the child reached 9 months of age his hair remained sparse. The patient’s nails and hearing were normal, allowing us to create a differential diagnosis based on the classification developed by Freire-Maia [4]. The ChristSiemens-Touraine (CST) syndrome, autosomal recessive hypohidrotic ectodermal dysplasia and Lenz-Passarge’s dysplasia are included in this differential diagnosis. Because of the extreme rarity of the last two diagnoses listed, the patient’s diagnosis was felt to be most consistent with CST syndrome and therefore transmitted in the X-linked recessive pattern. While the serous otitis resolved with the ventilating tubes, the nasal crusting persisted. Trials of Mucomist and expectorants were unsuccessful. Seven months later, the ventilating tubes spontaneously extruded and recurrence of serous otitis media was noted. The patient was brought back to the operating room for replacement of the ventilating tubes and again nasal crusts were removed. Gentamicin ophthalmic drops were placed in the nasal cavity daily postoperatively in an attempt to decrease the foul odor in the nose. This was partially successful and crusts returned in 3 weeks. The odor returned to a lesser degree when nasal irrigation with saline drops was alternated with gentamicin drops.
History Thurnman [lo] in 1848 described the first patient with the triad of deficient sweating, sparse hair growth and deficient teeth. The term ‘congenital ectodermal defect’ was brought into use in 1913 by Christ, according to Goeckerman [6]. In 1928 Weech [12] coined the term ‘hereditary ectodermal dysplasia’ and subtyped these diseases into the hidrotic and anhidrotic forms. In the early 1900’s the etiology of the syndrome was thought to be similar to congenital syphilis because of the superficial resemblance of the facies in these two disorders. The genetic transmission of anhidrotic ECD was worked out within the last 60 years. This disorder is also credited with furthering our knowledge about the role of sweating in thermoregulation. The mode of inheritance of the group of anhidrotic ectodermal dysplastics is an X-linked recessive pattern in the majority of cases, as is shown in the series by Cockayne [3] in 1933. With this pattern, males present with the clinical triad whereas females with the trait are carriers, and present with a minor syndrome. This lesser expression of the trait can be detected by physical examination in up to 70% of patients as stated in Clarke’s [2] article. It is possible to recognize female carriers by subtle dental deformations, fine hair, and decreased number of sweat pores in the palms and fingers. A minority of cases present an autosomal recessive mode of
268
inheritance. Rapp and Hodgkin [8] reported in 1968 on anhidrotic ECD associated with cleft lip and palate and transmitted via an autosomal dominant mode. This has become known as the Rapp-Hodgkin type. These patients also lack certain characteristics of the facies seen in anhidrotic ECD.
Clinical presentation The syndrome of anhidrotic ECD is frequently not diagnosed in early infancy because of the lack of physical findings. Oligodontia and hypotrichosis are normal findings for this age group. Infants will present with high fevers, recurrent otitis media, nasal obstruction or dysphagia. Frequently these symptoms will occur sporadically and will not be present on the office examination. The nasal obstruction described, rarely causes significant airway compromise. Less commonly, these children will present with a chronic hoarse cry, or chronic cerumen impaction. Capitanio [l] presents the rare case of an infant presenting with a severe pneumonia from which he quickly succumbed. The older children describe heat intolerance with dyspnea on exertion, chronic sore throat with dry mouth, hoarseness, and nasal obstruction with the decreased ability to taste food. The most common complaint however is dissatisfaction with their physical appearance. Hemoptysis, epistaxis or allergic symptoms are less common presenting complaints. These symptoms are greatly aggravated by the presence of family members smoking in the household. These older children are more easily diagnosed by their dry smooth skin, papular malar rash, sparse lightly pigmented hair, anodontia and dry mucous membranes. If several teeth are present they are all conically shaped. They also have a characteristic facies which appears small because of defects including frontal bossing, prominent supraorbital ridges and flattened nasal dorsum with subtle saddle-nose deformity. Rhinoscopy commonly reveals a greatly expanded nasal cavity with extraordinary atrophy of the inferior and middle turbinates. The thick protruding lower lip in contrast to the thin upper lip is referred to as pseudoprognathism. Patients with ECD have been reported living well into their fifth decade of life. It does not appear that these patients have a common mechanism for their demise. A formal life-expectancy has not been suggested in the literature.
Pathophysiology It has been postulated that the scant mucus production in the mucous membranes of the aerodigestive tract caused by a decreased number of mucus secreting glands, leads to dry mucus membranes. The dry mucous membranes without the protective layer of mucous lead to frequent URIS, pharyngitis, laryngitis and bronchitis. The secondary effect is nasal crusting with obstruction of the nasal airway, epistaxis, hemoptysis and dysphagia. In addition, mucus plugging of the tracheobronchial tree and lethal pneumonias secondary to staphylococcus can
269
occur. Decreased saliva production caused by poorly functioning salivary glands has been suggested in several articles including Clarke’s [2], although histological proof is lacking. The chronic inflammation of the pharyngeal mucous membrane probably plays a role in the development of chronic serous otitis media. Patients with ECD were also found to have a statistically significant increased prevalence of extrinsic bronchial asthma and allergic rhinitis, according to Vanselow [ll]. The proposed mechanism is the lack of mucus which allows for less antigenic destruction and therefore greater allergen exposure. The high fevers and heat intolerance are secondary to the inability to lose heat by sweating. These children become febrile quickly when in hot environments including the testing environment during sweat testing. This hyperpyrexia may have led to mental retardation in some of the earlier reported cases. Mental retardation does not appear in any of the later reported cases and does not appear to be an inherited defect. It now appears that these children have the ability to attain normal mental function.
Histology
Autopsy and biopsy specimens are reported in the literature. Thurnman’s [lo] original patient was shown to have deficient ectodermal elements including deficient pigment in the epidermis as well as the absence of sweat and pilosebaceous glands. In 1968 Capitanio et al. [l] showed the absence of seromucinous glands in multiple sections of the larynx, trachea and bronchi, although some goblet cells were present. In the oral mucous membranes there was also an absence of seromucinous glands. Histopathology of the nasal mucosa revealed that the ciliated epithelium had undergone metaplasia to squamous epithelium according to Gil-Carcedo [5]. In addition, the number of goblet cells was markedly reduced. The papular lesions on the face represent large superficially placed, degenerated sebaceous glands together with hyperkeratotic dilated follicular orifices and surrounding acanthosis.
The treatment of serous otitis media is usually surgical because of the unremitting nature of this disease. Removal of nasal crusts under general anesthesia appears to be necessary to allow saline irrigation to be most effective. Gentamicin drops appear to be effective in decreasing the nasal odor, especially when alternated with saline irrigation. It is most important to relieve the nasal obstruction in infants, because they are obligate nasal breathers. Cerumen impaction can be treated with routine visits for cerumen disimpaction and peroxide solution weekly to keep cerumen moist and avoid accumulation. It is
270
important to initiate therapy for serous otitis media and cerumen impaction early to stabilize hearing and prevent infection. As mentioned in Clarke’s article [2] it is important to fit the child early with dentures to improve articulation, appearance and nutrition. Appearance can also be improved by rhinoplasty to augment the flattened nasal dorsum, as advocated by Lipschutz 171. This may be accomplished best in the teenage years when the majority of nasal growth has been completed. Pediatric, genetic and dermatologic consultation are essential in providing the total care of these patients. Genetic counselling will aid parents and siblings in planning their families. These patients must also be counseled with regard to the type of employment they should avoid, such as construction work. In this type of work, dust and small particles of wood and metal can cause irritation to the mucous lining of the aerodigestive tract and increase the rate of infectious complications. Likewise these patients should also avoid smoking which may be particularly irritating.
Conclusion Anhidrotic ECD is a rare group of disorders that may present with many of the most common symptoms seen in the head and neck area. The pediatric otolaryngologist is often consulted because of the chronicity of these symptoms. It is only with a knowledge of these disorders that the patient with anhidrotic ECD can be identified. A history of unexplained fevers and intolerance to heat is uniformly present in these patients. Physical findings including dry mucous membranes, dry skin, thick nasal crusts, sparse hair and lack of teeth should make one suspicious of the diagnosis. Radiographs confirming the absence of tooth buds in the infant along with a sweat test notable for an absent or decreased sweating reponse to heat confirms the diagnosis.
References 1 Capitanio, M.A., Chen, J.T.T., Arey, J.B. and Kirkpatrick, J.A., Congenital anhidrotic ectodermal dysplasia, Am. J. Roentgenol., 103 (1968) 168-172. 2 Clarke, A., Hypohidrotic ectodermal dysplasia, J. Med. Genet., 24 (1987) 659-663. 3 Cockayne, E.A., Inherited Abnormalities of the Skin and its Appendages, Oxford University Press, London, 1933. 4 Freire-Maia, N. and Pinheiro, M., Ectodermal Dysplasias: A Clinical and Genetic Study, Alan R. Liss, New York, 1984. 5 Gil-Carcedo, L.M., The nose in anhidrotic ectodermal dysplasia, Rhinology, 20 (1982) 231-235. 6 Goeckerman, W.H., Congenital ectodermal defect, with report of a case, Arch. Dermatol. Syph., 1 (1920) 396-412. 7 Lipschutz, H., Anhidrotic Ectodermal Dysplasia, J. Albert Einstein Med. Center, 11 (1963) 33-35. 8 Rapp, R.S. and Hodgkin, W.E., Anhidrotic ectodermal dysplasia: Autosomal dominant inheritance with palate and lip anomalies, J. Med. Genet., 5 (1968) 269-272.
211
9 Stevenson, A.C. and Kerr, C.B., On the distributions of frequencies of mutation to genes determining harmful traits in man, Mutat. Res., 4 (1967) 339-352. 10 Thumman, J., Two cases in which the skin, hair and teeth were very imperfectly developed, Proc. R. Med. Chir. Sot., 71 (1848) 71-81. 11 Vanselow, N. et al., The increased prevalence of allergic disease in anhidrotic congenital ectodermal dysplasia, J. Allergy, 45 (1970) 302-309. 12 Weech, A.A., Hereditary ectodennal dysplasia (congenital ectodermal defect), Am. J. Dis. Child., 37 (1929) 766-790.
