Clinical and laboratory
studies II
I
II
I
Cutaneous findings in a new syndrome of autosomal recessive ectodermal dysplasia with corkscrew hairs William Abramovits-Ackerman, MD, a Tania Bustos, MD, b Venancio Simosa-Leon, MD, b Luis Fernandez, MD, c and Marcos Ramella, M D c San Antonio, Texas, and Caracas, Venezuela Background: The association of hair shaft abnormalities with the phenotypic findings of a new, distinct form of an autosomal recessive syndrome of ectodermal dysplasia was present in 27 patients from seven families. Objective: Our purpose was to present the cutaneous findings that characterize this syndrome with particular attention given to the hair shaft abnormalities. Methods: Multiple field visits were used to gather data on phenotypic findings and prospectively evaluate their prevalence. Results: Corkscrew hair, an exaggeration of pill torti, represents the most striking feature of this syndrome. Prominent cutaneous findings include scalp keloids, follicular plugging, keratosis pilaris, xerosis, eczema, palmoplantar keratodermia, cutane6us syndactyly, onychodysplasia, and conjunctival neovascularization. Other features include typical facies, anteverted pimiae, malar hypoplasia, cleft lip and palate, and dental abnormalities. Conclusion: A syndrome characterized by pill torti and corkscrew_hairs, previously reported in only one patient, can be recognized. (J AM ACAD DER.MATOL1992;27:917-21.) The ectodermal dysplasias (EDs) are a clinically and genetically heterogeneous group in which the cardinal features are the absent, incomplete, or delayed development during embryogenesis of one or more of the epidermal appendages or oral mucosa.1 Abnormalities of the hair occur with the greatest frequency (>90%), teeth and nails are involved in approximately 80% and 75% of cases, respectively, and structural and/or functional defects of the sweat glands are present in approximately 42%. 2 One hundred thirty-five conditions have been recently classified as distinct types of ED. 2 We describe the cutaneous findings in 27 patients from seven families, with a previously undescribed type of ED, who live on Margarita Island northeast of Venezuela in the Caribbean. The island has a population of 150,000 inhabitants with a high mean coefficient of inbreeding. From the FamilyPractice(Dermatology),UniversityofTexasHealth Sciences Center, San Antonioa;the Centro National de Genefica Humanay Experimental,UniversidadCentral de Venezuela,Caracash;and the Rural MedicineProgramof the Universityof Health and SocialAssistanceof Venezuela? Acceptedfor publicationMay 11, 1992. Reprint requests:WilliamAbramovits-Aekerman,MD, ValleyInternational DermatologyAssociates,301 North Main, McAllen,TX 78501. 16/1/39171
PATIENTS AND METHODS Our patients represent the affected persons in seven pedigrees detected through a 17-year-old propositus. Multiple field visits were used to gather data on phenotypic findings and prospectively evaluate their prevalence. Twenty of 27 affected persons were examined. Three others have died but were considered to be affected by means of photographic evidence; four, known by their relatives to be affected, were not examined. Of those affected, 14 were male, and 13 were female. We examined 10 male patients and 10 female patients. The female/ male ratio was approximately 1:1. The youngest patient was a 3-month-old boy and the oldest a 68-year-old woman. The patients were fully examined by a dermatologist (W. A.). Two dermatologists and a trichologist evaluated the hairs. Studies on these hairs included direct and polarized light microscopy. Trichograms and Trichoanalysis with Redken instruments were performed to determine elongation and tensile strength. Sweat pore count per square centimeter was evaluated with a modification of the technique proposed by Frias and Smith) Scalp biopsy specimens were obtained from one patient. Table I illustrates the distribution of cases according to family groups and the cutaneous findings for each person. RESULTS The clinical and laboratory evaluations disclosed 917
918
Journal of the A m e r i c a n A c a d e m y of Dermatology
Abramovits-Ackerman et al.
Table I. Dermatologic and other pertinent clinical findings in 20 patients from seven families with autosomal recessive ectodermal displasia
Age (yr) Sext Pili torti (with corkscrew hair) Scalp keloids Scalp follicular plugging Keratosis pilaris Xerosis Eczema Palmoplantar keratodermia Cutaneous syndactyly Onychodysplasia+ Typical facies Anteverted pinnae Malar hypoplasia Cleft lip and palate Dental abnormalities Conjunctival reddening
65 F +
38 M +
36 M +
13 F +
24 M +
17 M +
4 M +
9 M +
16 F +
+
-
+
- -
m
~
_
_
m
+
+
+
+
+
+
+ + + +
+ +
+ +
+ + + +
+ + + +
+ + + +
+ +
+ + + +
+ + + +
+
+
+
-
+
+
+
-
+
+ + + +
+ + + +
+ + + + +
+ + + +
+ + + +
+ + -+
+ + + +
+ + + +
+ + + +
-
+
+
+
+
--
+
+
+
+
+
+
--(Not quantified)--
*Patient No. ?Female/male ratio, 1:1.
the following categories of findings for this syndrome: 1. Structural abnormalities of the hair shaft 2. Abnormalities of the hair-bearing areas 3. Abnormalities of the glabrous skin 4. Mucosal abnormalities 5. Nail abnormalities Evidence of this syndrome was present at birth in all patients, manifested initially as dry, lusterless, and lighter than expected hair (Fig. 1). Progressive alopecia began during early childhood and led to almost total baldness by the sixth decade. The alopecia began at the occiput and progressed certrifugally. All hair was affected except for some fine hairs on the upper lip and malar areas in some female patients. Terminal hair of the eyebrows and lashes (Fig. 2), the beard and mustache, the axillae, pubis, trunk, arms, and legs was involved. A progressive reduction was noted in the size and number of hairs and hair follicles, probably in part as a result of scarring. The hairs had a reduced capacity to grow. They averaged 2 to 3 cm and reached 5 cm in only a few patients.
The hair was easy to pluck and had roots no deeper than 1 to 2 mm in the scalp. All plucked hairs were in anagen. The location of the anterior and posterior hair lines was normal. Two patients had two whorls, one in the frontal area and the other in the occipital area. Macroscopically the hairs appear as uncoiled springs twisted at regular or irregular intervals and straight at the tip (Fig. 3). Microscopically, the cuticular layer is disorganized and focally clumped. The hair is flattened and twisted up to 360 degrees repeatedly, mostly at irregular intervals along its longitudinal axis (Fig. 4). This serpentine or helical shape was more pronounced in the proximal end of the strand. Polarized light microscopy showed an even refringence throughout the length of the hair. None of the hairs exhibited alternating light and dark bands so it was assumed that the sulfur content of these hairs was normal. The hairs tapered from coarser than average to thin, within a length of 2 to 5 cm. The average diameter was 0.12 mm (approximately 0.08 mm is normal).
Volume 27 N u m b e r 6, P a r t 1 D e c e m b e r 1992
Hair shaft abnormalities in ED
919
Family B
C
D
E
F
G
10
11
12
13
14
15
16
17
18
19
20
%
4 F +
4 F +
16 M +
10 mo F +
4 mo M +
18 F +
8 F +
33 M +
4 M +
17 F +
26 F +
100
-
+
+
-
-
+
+
+
+
+
+
+
+
+
+
+
15 95
-
+
+
-
_
+
+
+
+
+
-
+
-
+
+
+
+
+
+
+
+
+
+
+
+ + + +
+ + +
+ + +
+ + + +
+ + + +
75 85 75 100
+
+
+
+
+
+
-
-
65
+
+
+
-
_
+
+
+
+
+
+
+ + +
+ -
+ + _
+ +
+ + +
+ + +
+ -
+ +
_
_
+
+
-
+
+
+
+
+
+
+ + . +
+ + +
_
+ + + + +
+
+
85 100 75 70 35 100
Tensile strength tests revealed that the force required to break hair fibers was lower than expected for the diameter; hair elongation capacity was reduced to 17.5% (average 40% or more). The hairs did not stretch but were not easy to break. The skin of the hair-bearing area was asymptomatic except for pruritus resulting from dryness and pseudofolliculitis. Keloids were on the occiput of three patients (15%); histologic findings in one patient suggested that the keloids resulted from a foreign body reaction to pseudofolliculitis. Follicular plugging was conspicuous throughout the scalp in all but one patient (95%). Keratosis pilaris was present on the trunk and extremities of 15 patients (75%). The 25% without keratosis pilaris were children younger than 5 years of age. The glabrous skin was affected by xerosis and eczematous patches in 18 patients (90%), which suggests atopic dermatitis. However, a history did not reveal other manifestations of atopy. A conspicuous finding was a motility-limiting keratodermia of the palms and soles in all patients (Fig. 5). Acrylic imprints from the palms showed the
.
. +
.
number of eccrine sweat glands to be normal. The response of the sweat glands on the body to heat was apparently unaffected. Cutaneous syndactyly not accompanied by osseous abnormalities was present in 13 cases (65%) (see Fig. 5). Neovascularization of the bulbar conjunctiva was noted (see Fig. 2), but the prevalence of this feature was not quantified. Onychodysplasia, manifested by thickened nail plates with increased convexity both laterally and longitudinally and a loss of Lovibond's angle, was present in 17 patients (85%), including one with anonychia. DISCUSSION Pili torti is a rare hair-shaft defect in which the shaft is flattened and twisted on its own axis. The twists are narrow, occur in groups of 3 to 10, and give the hair a strikingly spangled appearance in reflected light. The hair is brittle, fragile, and consequently broken and short. 4 Pili torti was first definitively described by Schutz in 1900. It was later named and described in detail
920
Abramovits-Ackerman et aL
Journal of the American Academy of Dermatology
Fig. 1. Progressive alopecia with structural abnormalities of hair shafts. Fig. 2. Scant eyebrows and lashes show shaft abnormalities; note mucosal alteration of bulbar conjunctiva. Forehead shows normal sweating. Fig. 3. Typical corkscrew-shaped hair shafts. Fig. 4. Serpentine, flattened hairs twist repeatedly. Fig. 5. Motility limiting keratodermia and syndactyly.
by Galewsky and by Ronchese, respectively, in 1932. 5 In 1980, Whiting et al. 6 described a unique type of congenital alopecia caused by pill torti. A peculiar helical shape of the hair was named corkscrew
hair. To date, no other case has been reported with similar hair shaft abnormality. In 1991 we7 reported a previously undescribed dysplasia-malformation syndrome named autosoreal recessive ED in 27 patients. In that report era-
Volume 27 Number 6, Part 1 December 1992 phasis was placed on its autosomal recessive pattern of inheritance. The hereditary EDs consist of more than 135 distinct combinations of involvement of ectodermalderived structures and are usually categorized into the anhidrotic, hypohidrotic, and hidrotic varieties. Our patients belong in the hidrotie category. Classic pili torti syndrome represents a form of ED with both autosomal dominant or recessive and sporadic hereditary patterns. It affects female patients more commonly, and the hair is usually blond, spangled, short, and broken. Associated findings included keratosis pilaris, widely spaced teeth with hypoplasia of the enamel, nail dystrophy, corneal opacities, ichthyosis, and sensorineural hearing loss. Our patients do not belong in this syndrome. The patient described by Whiting et al. 6 with corkscrew hair can also be included within the hereditary EDs. In their case, the associated findings included widely spaced teeth, enamel hypoplasia, and cutaneous syndactyly. The latter sign had not been associated with pili torti. Various dental abnormalities were present in all our patients. We conclude that the patient described by Whiting et al. 6 belongs in the type of hereditary ED we have described, although there is uncertainty of the hereditary pattern in their case. Other features of this syndrome include a characteristic facies with malar hypoplasia, an asymmetric broad-based nose, cleft lip or palate, and/or an abnormal philtrum and anteverted pinnae.
Hair shaft abnormalities in ED
921
Typical pili torti is the usual hair shaft anomaly; the corkscrew hair seems to be an exaggeration of the same process. However, corkscrew hairs are unique to the patients with the cluster of findings reported by Whiting et al. 6 and us. Hairs with intermediate features between pili torti and corkscrew hairs may be present in other EDs. REFERENCES
1. HolbrookKA. Structural abnormalities of the epidermally derived appendages in skin from patients with ectodermal dysplasia: insight into developmental errors. Developmental Errors in ED. Dept. of BiologicalStructure, University of Washington School of Medicine. New York: Alan R Liss, 1988;24:16-42. 2. Freire-MaiaN, Pinheiro M. Ectodermal dysplasias--some recollectionsand a classification. Birth defects. New York: Alan R Liss, for the National Foundation-March of Dimes, 1988:24:3-14. 3. Frias JL, Smith DW. Diminished sweat pores in hypohidrotic ectodermal dysplasia: a new method for assessment. J Pediatr 1968;72:606-110. 4. Price VH. Structural abnormalities of thehair shaft in hair and hair diseases, Orfanos CE, Happle R, eds. Berlin: Springer-Verlag, 1990:363-422. 5. RookAJ, DawberRPR. Defectsof the hair shaft in diseases of the hair and scalp. In: Diseases of the hair and scalp. Oxford: BlackwellScientific Publications, 1991:220-55, 6. WhitingDA, JenkinsT, WhitcombMJ. Corkscrewhair--a unique type of congenital alopecia in pill torti. In: Brown AC, Crounse RG, eds. Hair, trace elements, and human illness. New York: Praeger, [980:228-39. 7. Bustos T, Simosa V, Pinto-Cisternas, J, et al. Autosomal recessiveectodermal dysplasia. I. An undeseribed dysplasia/malformafion syndrome. Am J Med Genet 1991;41: 398-404.
studies II
I
II
I
Cutaneous findings in a new syndrome of autosomal recessive ectodermal dysplasia with corkscrew hairs William Abramovits-Ackerman, MD, a Tania Bustos, MD, b Venancio Simosa-Leon, MD, b Luis Fernandez, MD, c and Marcos Ramella, M D c San Antonio, Texas, and Caracas, Venezuela Background: The association of hair shaft abnormalities with the phenotypic findings of a new, distinct form of an autosomal recessive syndrome of ectodermal dysplasia was present in 27 patients from seven families. Objective: Our purpose was to present the cutaneous findings that characterize this syndrome with particular attention given to the hair shaft abnormalities. Methods: Multiple field visits were used to gather data on phenotypic findings and prospectively evaluate their prevalence. Results: Corkscrew hair, an exaggeration of pill torti, represents the most striking feature of this syndrome. Prominent cutaneous findings include scalp keloids, follicular plugging, keratosis pilaris, xerosis, eczema, palmoplantar keratodermia, cutane6us syndactyly, onychodysplasia, and conjunctival neovascularization. Other features include typical facies, anteverted pimiae, malar hypoplasia, cleft lip and palate, and dental abnormalities. Conclusion: A syndrome characterized by pill torti and corkscrew_hairs, previously reported in only one patient, can be recognized. (J AM ACAD DER.MATOL1992;27:917-21.) The ectodermal dysplasias (EDs) are a clinically and genetically heterogeneous group in which the cardinal features are the absent, incomplete, or delayed development during embryogenesis of one or more of the epidermal appendages or oral mucosa.1 Abnormalities of the hair occur with the greatest frequency (>90%), teeth and nails are involved in approximately 80% and 75% of cases, respectively, and structural and/or functional defects of the sweat glands are present in approximately 42%. 2 One hundred thirty-five conditions have been recently classified as distinct types of ED. 2 We describe the cutaneous findings in 27 patients from seven families, with a previously undescribed type of ED, who live on Margarita Island northeast of Venezuela in the Caribbean. The island has a population of 150,000 inhabitants with a high mean coefficient of inbreeding. From the FamilyPractice(Dermatology),UniversityofTexasHealth Sciences Center, San Antonioa;the Centro National de Genefica Humanay Experimental,UniversidadCentral de Venezuela,Caracash;and the Rural MedicineProgramof the Universityof Health and SocialAssistanceof Venezuela? Acceptedfor publicationMay 11, 1992. Reprint requests:WilliamAbramovits-Aekerman,MD, ValleyInternational DermatologyAssociates,301 North Main, McAllen,TX 78501. 16/1/39171
PATIENTS AND METHODS Our patients represent the affected persons in seven pedigrees detected through a 17-year-old propositus. Multiple field visits were used to gather data on phenotypic findings and prospectively evaluate their prevalence. Twenty of 27 affected persons were examined. Three others have died but were considered to be affected by means of photographic evidence; four, known by their relatives to be affected, were not examined. Of those affected, 14 were male, and 13 were female. We examined 10 male patients and 10 female patients. The female/ male ratio was approximately 1:1. The youngest patient was a 3-month-old boy and the oldest a 68-year-old woman. The patients were fully examined by a dermatologist (W. A.). Two dermatologists and a trichologist evaluated the hairs. Studies on these hairs included direct and polarized light microscopy. Trichograms and Trichoanalysis with Redken instruments were performed to determine elongation and tensile strength. Sweat pore count per square centimeter was evaluated with a modification of the technique proposed by Frias and Smith) Scalp biopsy specimens were obtained from one patient. Table I illustrates the distribution of cases according to family groups and the cutaneous findings for each person. RESULTS The clinical and laboratory evaluations disclosed 917
918
Journal of the A m e r i c a n A c a d e m y of Dermatology
Abramovits-Ackerman et al.
Table I. Dermatologic and other pertinent clinical findings in 20 patients from seven families with autosomal recessive ectodermal displasia
Age (yr) Sext Pili torti (with corkscrew hair) Scalp keloids Scalp follicular plugging Keratosis pilaris Xerosis Eczema Palmoplantar keratodermia Cutaneous syndactyly Onychodysplasia+ Typical facies Anteverted pinnae Malar hypoplasia Cleft lip and palate Dental abnormalities Conjunctival reddening
65 F +
38 M +
36 M +
13 F +
24 M +
17 M +
4 M +
9 M +
16 F +
+
-
+
- -
m
~
_
_
m
+
+
+
+
+
+
+ + + +
+ +
+ +
+ + + +
+ + + +
+ + + +
+ +
+ + + +
+ + + +
+
+
+
-
+
+
+
-
+
+ + + +
+ + + +
+ + + + +
+ + + +
+ + + +
+ + -+
+ + + +
+ + + +
+ + + +
-
+
+
+
+
--
+
+
+
+
+
+
--(Not quantified)--
*Patient No. ?Female/male ratio, 1:1.
the following categories of findings for this syndrome: 1. Structural abnormalities of the hair shaft 2. Abnormalities of the hair-bearing areas 3. Abnormalities of the glabrous skin 4. Mucosal abnormalities 5. Nail abnormalities Evidence of this syndrome was present at birth in all patients, manifested initially as dry, lusterless, and lighter than expected hair (Fig. 1). Progressive alopecia began during early childhood and led to almost total baldness by the sixth decade. The alopecia began at the occiput and progressed certrifugally. All hair was affected except for some fine hairs on the upper lip and malar areas in some female patients. Terminal hair of the eyebrows and lashes (Fig. 2), the beard and mustache, the axillae, pubis, trunk, arms, and legs was involved. A progressive reduction was noted in the size and number of hairs and hair follicles, probably in part as a result of scarring. The hairs had a reduced capacity to grow. They averaged 2 to 3 cm and reached 5 cm in only a few patients.
The hair was easy to pluck and had roots no deeper than 1 to 2 mm in the scalp. All plucked hairs were in anagen. The location of the anterior and posterior hair lines was normal. Two patients had two whorls, one in the frontal area and the other in the occipital area. Macroscopically the hairs appear as uncoiled springs twisted at regular or irregular intervals and straight at the tip (Fig. 3). Microscopically, the cuticular layer is disorganized and focally clumped. The hair is flattened and twisted up to 360 degrees repeatedly, mostly at irregular intervals along its longitudinal axis (Fig. 4). This serpentine or helical shape was more pronounced in the proximal end of the strand. Polarized light microscopy showed an even refringence throughout the length of the hair. None of the hairs exhibited alternating light and dark bands so it was assumed that the sulfur content of these hairs was normal. The hairs tapered from coarser than average to thin, within a length of 2 to 5 cm. The average diameter was 0.12 mm (approximately 0.08 mm is normal).
Volume 27 N u m b e r 6, P a r t 1 D e c e m b e r 1992
Hair shaft abnormalities in ED
919
Family B
C
D
E
F
G
10
11
12
13
14
15
16
17
18
19
20
%
4 F +
4 F +
16 M +
10 mo F +
4 mo M +
18 F +
8 F +
33 M +
4 M +
17 F +
26 F +
100
-
+
+
-
-
+
+
+
+
+
+
+
+
+
+
+
15 95
-
+
+
-
_
+
+
+
+
+
-
+
-
+
+
+
+
+
+
+
+
+
+
+
+ + + +
+ + +
+ + +
+ + + +
+ + + +
75 85 75 100
+
+
+
+
+
+
-
-
65
+
+
+
-
_
+
+
+
+
+
+
+ + +
+ -
+ + _
+ +
+ + +
+ + +
+ -
+ +
_
_
+
+
-
+
+
+
+
+
+
+ + . +
+ + +
_
+ + + + +
+
+
85 100 75 70 35 100
Tensile strength tests revealed that the force required to break hair fibers was lower than expected for the diameter; hair elongation capacity was reduced to 17.5% (average 40% or more). The hairs did not stretch but were not easy to break. The skin of the hair-bearing area was asymptomatic except for pruritus resulting from dryness and pseudofolliculitis. Keloids were on the occiput of three patients (15%); histologic findings in one patient suggested that the keloids resulted from a foreign body reaction to pseudofolliculitis. Follicular plugging was conspicuous throughout the scalp in all but one patient (95%). Keratosis pilaris was present on the trunk and extremities of 15 patients (75%). The 25% without keratosis pilaris were children younger than 5 years of age. The glabrous skin was affected by xerosis and eczematous patches in 18 patients (90%), which suggests atopic dermatitis. However, a history did not reveal other manifestations of atopy. A conspicuous finding was a motility-limiting keratodermia of the palms and soles in all patients (Fig. 5). Acrylic imprints from the palms showed the
.
. +
.
number of eccrine sweat glands to be normal. The response of the sweat glands on the body to heat was apparently unaffected. Cutaneous syndactyly not accompanied by osseous abnormalities was present in 13 cases (65%) (see Fig. 5). Neovascularization of the bulbar conjunctiva was noted (see Fig. 2), but the prevalence of this feature was not quantified. Onychodysplasia, manifested by thickened nail plates with increased convexity both laterally and longitudinally and a loss of Lovibond's angle, was present in 17 patients (85%), including one with anonychia. DISCUSSION Pili torti is a rare hair-shaft defect in which the shaft is flattened and twisted on its own axis. The twists are narrow, occur in groups of 3 to 10, and give the hair a strikingly spangled appearance in reflected light. The hair is brittle, fragile, and consequently broken and short. 4 Pili torti was first definitively described by Schutz in 1900. It was later named and described in detail
920
Abramovits-Ackerman et aL
Journal of the American Academy of Dermatology
Fig. 1. Progressive alopecia with structural abnormalities of hair shafts. Fig. 2. Scant eyebrows and lashes show shaft abnormalities; note mucosal alteration of bulbar conjunctiva. Forehead shows normal sweating. Fig. 3. Typical corkscrew-shaped hair shafts. Fig. 4. Serpentine, flattened hairs twist repeatedly. Fig. 5. Motility limiting keratodermia and syndactyly.
by Galewsky and by Ronchese, respectively, in 1932. 5 In 1980, Whiting et al. 6 described a unique type of congenital alopecia caused by pill torti. A peculiar helical shape of the hair was named corkscrew
hair. To date, no other case has been reported with similar hair shaft abnormality. In 1991 we7 reported a previously undescribed dysplasia-malformation syndrome named autosoreal recessive ED in 27 patients. In that report era-
Volume 27 Number 6, Part 1 December 1992 phasis was placed on its autosomal recessive pattern of inheritance. The hereditary EDs consist of more than 135 distinct combinations of involvement of ectodermalderived structures and are usually categorized into the anhidrotic, hypohidrotic, and hidrotic varieties. Our patients belong in the hidrotie category. Classic pili torti syndrome represents a form of ED with both autosomal dominant or recessive and sporadic hereditary patterns. It affects female patients more commonly, and the hair is usually blond, spangled, short, and broken. Associated findings included keratosis pilaris, widely spaced teeth with hypoplasia of the enamel, nail dystrophy, corneal opacities, ichthyosis, and sensorineural hearing loss. Our patients do not belong in this syndrome. The patient described by Whiting et al. 6 with corkscrew hair can also be included within the hereditary EDs. In their case, the associated findings included widely spaced teeth, enamel hypoplasia, and cutaneous syndactyly. The latter sign had not been associated with pili torti. Various dental abnormalities were present in all our patients. We conclude that the patient described by Whiting et al. 6 belongs in the type of hereditary ED we have described, although there is uncertainty of the hereditary pattern in their case. Other features of this syndrome include a characteristic facies with malar hypoplasia, an asymmetric broad-based nose, cleft lip or palate, and/or an abnormal philtrum and anteverted pinnae.
Hair shaft abnormalities in ED
921
Typical pili torti is the usual hair shaft anomaly; the corkscrew hair seems to be an exaggeration of the same process. However, corkscrew hairs are unique to the patients with the cluster of findings reported by Whiting et al. 6 and us. Hairs with intermediate features between pili torti and corkscrew hairs may be present in other EDs. REFERENCES
1. HolbrookKA. Structural abnormalities of the epidermally derived appendages in skin from patients with ectodermal dysplasia: insight into developmental errors. Developmental Errors in ED. Dept. of BiologicalStructure, University of Washington School of Medicine. New York: Alan R Liss, 1988;24:16-42. 2. Freire-MaiaN, Pinheiro M. Ectodermal dysplasias--some recollectionsand a classification. Birth defects. New York: Alan R Liss, for the National Foundation-March of Dimes, 1988:24:3-14. 3. Frias JL, Smith DW. Diminished sweat pores in hypohidrotic ectodermal dysplasia: a new method for assessment. J Pediatr 1968;72:606-110. 4. Price VH. Structural abnormalities of thehair shaft in hair and hair diseases, Orfanos CE, Happle R, eds. Berlin: Springer-Verlag, 1990:363-422. 5. RookAJ, DawberRPR. Defectsof the hair shaft in diseases of the hair and scalp. In: Diseases of the hair and scalp. Oxford: BlackwellScientific Publications, 1991:220-55, 6. WhitingDA, JenkinsT, WhitcombMJ. Corkscrewhair--a unique type of congenital alopecia in pill torti. In: Brown AC, Crounse RG, eds. Hair, trace elements, and human illness. New York: Praeger, [980:228-39. 7. Bustos T, Simosa V, Pinto-Cisternas, J, et al. Autosomal recessiveectodermal dysplasia. I. An undeseribed dysplasia/malformafion syndrome. Am J Med Genet 1991;41: 398-404.
