Dermatológica 154: 235-243 (1977)

Anhidrotic (or Hypohidrotic) Ectodermal Dysplasia A. M artin-P ascual, P. D e U namuno, M. A paricio and V. H erreros Department of Dermatology and Department of Medicine (Prof. S. de C astro), Faculty of Medicine, University of Salamanca, Salamanca

Key Words. Genodermatosis • Sweat eccrine defect • X-linked inheritance • Palmoplantar hyperkeratosis • Dental abnormalities • Hypotrichosis • Sebaceous hyperplasia Abstract. A case with anhidrotic ectodermal dysplasia is reported. He is a male belong­ ing to a family which could suggest a recessive X-linked pattern of inheritance. The charac­ teristics which are found in this patient are compared with those described by other authors in the medical bibliography.

Anhidrotic ectodermal dysplasia (AED) is a genodermatosis characterized by anhidrosis or hypohidrosis [10], hypotrichosis, complete or partial anodontia and characteristic facies (wide and prominent forehead, prominence of supraorbital ridges, flattened nose, sharp chin, etc.) [2, 4-6, 11], These major defects can be associated less frequently with nail dystrophy [7,10,11], genital abnormalities [11], palmoplantar hyperkeratosis [5], cleft lip and palate [7, 11], personal or family history of atopy [6, 8], absence of mammary glands [4, 9], etc. In its maximal expression the syndrome almost exclusively affects males [3-5). K err et al. [4] point out the hereditary form of transmission as follow­ ing the recessive X-linked pattern. The carriers can present attenuated phenotypic features of this syndrome [3-5, 9],

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Received: November 2, 1976; accepted: November 16, 1976.

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236 M artin -Paschal, D e U namuno/A paricio/H erreros

Fig. 2. Face involvement.

Fig. 3. Arrows shows the papulous linear supraclavicular lesion. Fig. 4. Hyperkeratosis of the palm.


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Anhidrotic (or Hypohidrotic) Ectodermal Dysplasia


M artin-P ascual/D e U namuno/A paricio/H f.rreros

Case Report The propositus (VI-13) is a male of 39 years, born in San Miguel de Valero (Sala­ manca). He is the 6th of 10 siblings of consanguineous parents (fig. 1). An older brother (VI-6) died at the age of 39 of gastric cancer. Another brother (VI-10) died at the age of 3 of ‘acute lung infection’. Two sisters (VI-5 and 7) died respectively in a matter of days and months after birth of unknown causes. The remainder, one brother and four sisters, are alive and healthy and neither in them nor in their offspring have signs of AED been detected. The only two brothers of the mother (V-12 and 17) died in childhood of unknown causes. The maternal grandmother's brother (IV-3) presented, according to the family history, the same appearance and characteristics as the propositus. The patient stated that, for as long as he could remember, he had been unable to sweat and needed to cool himself with water continuously when working in hot conditions. When physical efforts were involved, he experienced a feeling of suffocation, dyspnea, general redness of the skin and severe headache. During childhood he noticed intense hyper­ keratosis of the palms which increased when working manually. At the same time he noticed hair loss from the scalp. Only 6 teeth from the dental set remained. His sight had diminished by degrees.

Fig. 5. X-ray orthopantography of the oral cavity.

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Physical examination. Patient of tall stature, well nourished and of normal physical and psychological development. He presents certain characteristic facial features: promi­ nent forehead, flattened nose, deep set eyes with prominent supraorbital ridges and zygo­ matic arch, periorbital pigmentation, strabismus of left eye, underdeveloped lower maxilla and sharp chin, underdeveloped maxilla muscles, ear flaps. Severe diffuse alopecia of scalp (fig. 2), which also affects the eyebrows and eyelashes. The remaining hair is fine and sparse.

Anhidrotic (or Hypohidrotic) Ectodermal Dysplasia


In the mouth, prominent lips, gothic palate, 6 teeth and the only canine being curved and peg-shaped. Almost the entire cutaneous surface is dry and with body hair either non­ existent or at best a weak growth. In the laterals of the neck, small yellowish papules. In the supraclavicular regions one observes a papulous lesion of linear distribution above which hair is growing normally (fig. 3). Mammary glands and nipples are absent. Scanty pubic and axillary hair. Well developed genitals. On palms and soles, dispersed severe hyperkeratosis with deep fissures, as well as dystrophy of the nails (fig. 4).

Fig. 6. Reduction and fragmentation of elastic fibers in papulous lesion of the neck. Orcein, x 200.

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Laboratory data. Hemogram, ERS, blood glucose, uremia, blood protein electro­ phoresis, ionogram, urine and blood amino acids, karyotype are within normal limits.


M artin-P ascual/D e U namuno/A paricio/H erreros

Fig. 7. Hyperplasia of sebaceous glands in the papulous linear lesion. HE. x 80.

Hislopalhology. A histopathological study was performed of three different lesions: (1) a yellowish papulous lesion on the lateral of the neck, (2) papulous linear supraclavi cular lesion, and (3) palm of the hand. Samples, fixed in 10% formol, were embedded in paraffin and stained with hematoxylin and eosin, orcein and Gabc (a variant of Gomori’s technique of paraldehyde fuchsin) [11], All the samples were cut in serial sections. (1) Papulous lesion of the neck: none of the sections show the existence of sweat or sebaceous glands or hair follicles. With orcein and Gabe one observes a marked reduction and fragmentation of elastic fibers (fig. 6). (2) Papulous linear lesion: hyperplasia of sebaceous glands with well-developed hair follicles (fig. 7). Eccrine glands are nonexistent. (3) Palm of the hand (fig. 8): orthokeratotic hyperkeratosis. Much reduced eccrine sweat glands and in one area we observe dilated secretory tubules with PAS-positive material in the lumen.

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Ollier findings. Radiographic studies show a hypodontia with an almost total absence of dental alveoli and atrophy of the left branch of the lower maxilla (fig. 5). ENT examina­ tion shows a reddened pharynx and dry mucoscs. In ophthalmological examination we observe, as well as the strabismus already mentioned, amblyopia and astigmatism in the right eye in which sight is reduced. Fundus examination produces normal results. Lacrimal secretion is reduced (Schirmer's test). Stimulation with pilocarpine to provoke sweating is negative, as is thermic stimulation which only produces results in the axillary regions.

Anhidrotic (or Hypohidrotic) Ectodermal Dysplasia


Fig. 8. Orthokeratotic hyperkeratosis. Absence of cccrine sweat glands in palm. HE. x 30.


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In our case the inheritance trait is compatible with the recessive X-linked pattern. Accepting as a similar case the maternal grandmother’s brother, we can consider as heterozygotic carriers the patient’s great-grandmother (111-4), his maternal grandmother (IV-4) and his mother (V-9). Our attention is drawn to the high level of mortality, principally among the mother’s and patient’s brothers; one brother died at the age of 3 from an acute lung disease. H artwell el at. [2], L apiere and D odinval [5] and L owry et al. [6],

M artin-P ascual/D e U namuno/A paricio/H erreros

emphasize the frequency of infectious respiratory illnesses as well as a symptomatology of hyperthermia, suffocation, dyspnea and convulsions in patients and their relatives. This clinical picture, which can be confused with an acute lung infection, is interpreted by the authors as a result of hypo- or anhidrosis. The females examined (V-9, VI-11 and 17) do not present char­ acteristic symptoms of this syndrome. In our patient, thermic stimulation shows the presence of sweating only in the axilla. This confirms the fact that the absence of sweat glands is not absolute, since there are skin areas where perspiration can be provoked [4, 7, 10, 12]. The histological study reveals the absence of sweat glands on the chest and neck with a limited proportion on the palms. Shoenfeld el al. [10] and V erbov [12] also show the presence of sweating, albeit limited, on the palms. ENT exploration and lacrimal examination using Schirmer’s test, show the mucous membrane to be dry, reddened and a reduction of lacrimal secretion. L apiere et al. [5] and R eed et a l [8], in histological studies of skin and mucous membranes, show the lack or scarcity of glands at these levels. Glandular atrophy or absence also affects the mammary glands. In our patient these are totally non-existent, together with the nipples, facts already reported in the medical literature [4, 6, 8], The physical characteristics of our case are identical to those indicated in the literature, a fact which causes most of the patients to look alike. The alopecia affects the scalp as well as the eyebrows, eyelashes, axillary and pubic regions, the scanty existing hair being very fine. Although cases of total anodontia have been described [4, 8], this patient still has 6 teeth; the only remaining canine being curved and peg-shaped. In X-ray examination, the left branch of the lower maxilla is atrophic which leads us to suppose the absence of teeth. With respect to facial characteristics it is worth pointing out the strabismus as a further manifestation within the polymalformative syndrome. The palmoplantar hyperkeratosis and the nail dystrophy have been less frequently described with reference to AED [5, 7, 10, 11], since they consti­ tute a more characteristic finding in the hydrotic form [4, 6], K atz and P enneys [3] describe a patient with AED in which they observed the formation of yellowish milia-like papules which after histopathological study proved to be a sebaceous hyperplasia. Our patient presents similar lesions to these on the sides of the neck, as well as another of like characteristics but distributed lineally in the supraclavicular region, in which the hair is completely pre­ served. The histological study of the neck lesions fails to reveal the presence

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Anhidrotic (or Hypohidrotic) Ectodermal Dysplasia


of any cutaneous appendages with reduction and fragmentation of elastic fibers. In the lineally distributed lesion we observe a sebaceous hyperplasia with well-developed follicles.


Dr. M artin-P ascual, Departamento de Dermatología, Hospital Clínico Universitario, Paseo de San Vicente, Salamanca (Spain)

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1 G abe, M.: Techniques histologiques, pp. 822 (Masson, Paris 1968). 2 H artwell, S.W. ; Pickrell, K., and Q uinn , G.: Congenital anhidrosis ectodermal dysplasia: report of two cases. Clin. Pediat. 4: 383-386 (1965). 3 K atz, S.I. and P enneys, N.S. : Sebaceous gland papules in anhidrotic ectodermal dys­ plasia. Archs Derm. 103: 507-509 (1971). 4 K err, C.B. ; W ells, R.S., and C ooper, K.E.-: Gene effect in carriers o f anhidrotic ecto­ dermal dysplasia. J. med. Genet. 3: 169-176 (1966). 5 L apière, S. et D odinval, P. : Dysplasia ectodermique anhidrotique chez trois frères et leur cousin germain. Annls. Derm. Syph. 94: 477-489 (1967). 6 L owry , R.B.; R obinson, G.C., and M iller, J.R.: Hereditary ectodermal dysplasia. Symptoms, inheritance patterns, differential diagnosis, management. Clin. Pediat. 5: 395-402 (1966). 7 R app , R.S. and H odgkin , W.E.: Anhidrotic ectodermal dysplasia: autosomal domin­ ant inheritance with palate lip anomalies. J. med. Genet. 5: 269-272 (1968). 8 R eed, W.B. ; Lopez , D. A., and L anding , B. : Clinical spectrum of anhidrotic ectodermal dysplasia. Archs Derm. 102: 134-143 (1970). 9 R ook , A.; W ilkinson, D.S., and E bling, F.J.G.: Textbook of dermatology, 1st. ed., pp. 53-57 (Blackwell, Oxford 1968). 10 S hoenfeld, Y.; S hapiro, Y.; F isher, B.K., and D voretzky, L: Sweating in the anhi­ drotic type of congenital ectodermal dysplasia. Dermatológica 150: 277-282 (1975). 11 S ummitt, R.L. and H iatt, R.L. : Hypohidrotic ectodermal dysplasia with multiple associated anomalies. Birth Defects, 7: 121-124(1971). 12 Verbov, J.: Hypohidrotic (or anhidrotic) ectodermal dysplasia. An appraisal of diag­ nostic methods. Br. J. Derm. 83: 341-348 (1970).

Anhidrotic (or hypohidrotic) ectodermal dysplasis.

Dermatológica 154: 235-243 (1977) Anhidrotic (or Hypohidrotic) Ectodermal Dysplasia A. M artin-P ascual, P. D e U namuno, M. A paricio and V. H errer...
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