Atrichia with papular lesions

ARTICLE

A five-year-old Lybian girl presented with an obscure hair problem. At birth she had some fuzzy hair. This was lost within a few weeks after birth and not replaced by terminal hair. Since then she has been almost devoid of scalp and body hair, with the exception of sparse eyebrows and eyelashes (Figs. 1 and 2).

Atrichia with papular lesions

Hair was present at birth followed by an almost complete shedding with permanent absence of hair.

On physical examination the five-year-old girl appeared to be healthy with the exception of an almost complete hairlessness involving both scalp and body. When looking closely you find a nodule on the vertex (Fig. 1) and skin-colored papules surrounding the eyes were seen (Fig. 2). Moreover there were multiple skin-colored papules in other regions of the body. The toenails were also of yellowish hue (Figs. 3 and 4).

A biopsy of a papule of the left knee showed an acanthotic epidermis with orthohyperkeratosis above a dermal cyst containing horny and amorphous material (Fig. 5). On top of it there were eccrine sweat glands.

Histological findings revealed the complete absence of normal hair follicle structures, which were replaced by residual epithelial cell conglomerates and large dermal cysts.

When looking at the family history there were neither hair nor skin anomalies found. The parents of our patient were cousins and the grandmothers were sisters.

On the basis of these findings we established the diagnosis of atrichia with papular lesions (MIM no. 209 505).

Comment

In 1954, Damsté and Prakken [1] first used this term for three patients showing atrichia with multiple follicular keratinous cysts. Loewenthal and Prakken [2] reported a similar case in 1961, and additional reports followed [3-8].

Atrichia with papular lesions is a rare disorder of hair development, characterized by almost complete absence of hair shortly after birth because the lanugo hair is not replaced by terminal hair. In three cases the children were already hairless at birth [4].

Atrichia is associated with numerous papular lesions developing during the first two decades life. These lesions are cystic hamartomas originating from hair follicles and they mainly involve the face and neck [10]. Usually there are no other physical or mental abnormalities, although some cases with physical or mental retardation have been reported [3-5].

A differential diagnosis may be alopecia areata of the universalis type, where children are also born with hair and may already lose all of their hair within the first weeks or months of life.

Atrichia with papular lesions is an autosomal recessive trait caused by mutations in the hairless gene that maps on chromosome 8p12 [7, 11]. It encodes a putative transcription factor with restricted expression in the brain and skin, which is involved in the regulation of apoptosis during catagen remodeling in the hair cycle [6].

Interestingly, the hairless mouse has for many years been proposed as an animal model for atrichia with papular lesions [9]. The homology has now been proven at the molecular level [6].

According to the present knowledge it is not possible to stimulate hair growth in this disease.

References

1. Damsté S, Prakken JR. Atrichia with papular lesions; a variant of congenital ectodermal dysplasia. Dermatologica 1954; 108: 114-21.

2. Loewenthal JA, Prakken JR. Atrichia with papular lesions. Dermatologica 1961; 122: 85-9.

3. Del Castillo V, Ruiz-Maldonado R, Carnevale A. Atrichia with papular lesions and mental retardation in two sisters. Int J Dermatol 1974; 13: 261-5.

4. Czarnecki N, Stingl G. Atrichia congenita mit Hornzysten. Variante einer ektodermalen Dysplasie. Z Hautkr 1980; 55: 210-7.

5. Kruse F, Cichon S, Anker M, Hillmer AM, Barros-Nunez P, Cantu JM, Leal E, Weinlich G, Schmuth M, Fritsch P, Ruzicka T, Propping P, Nöthen MM. Novel hairless mutations in two kindreds with autosomal recessive papular atrichia. J Invest Dermatol 1999: 954-9.

6. Aita VM, Ahmad W, Pantleyev AA, Kozlowska U, Kozlowska A, Gilliam TC, Jablonska S, Christiano AM. A novel missense mutation (C622G) in the zinc-finger domain of the human hairless gene associated with congenital atrichia with papular lesions. Exp Dermatol 2000; 9: 157-62.

7. Ahmad W, Irvine AD, Lam H, Buckley C, Bingham EA, Panteleyev AA, McGrath JA, Christiano AM. A missense mutation in the zinc-finger domain of the human hairless gene underlies congenital atrichia in a family of Irish travellers. Am J Hum Genet 1998; 63: 984-91.

8. Ahmad W, Zlotogorski A, Panteleyev AA, Lam HM, Ahmad M, Haque MF, Abdallah HM, Dragan L, Christiano AM. Genomic organization of the human hairless gene (hr) and identification of a mutation underlying congenital atrichia in an Arab Palestinian family. Genomics 1999; 56: 141-8.

9. Sundberg JP, King LE Jr. Mouse models for the study of human hair loss. Dermatol Clin 1996; 14: 619-32.

10. Happle R. Genetic defects involving the hair. In: Orfanos CE, Happle R (Eds.). Hair and hair diseases. Springer. New York, Berlin, Heidelberg 1990: 336.

11. Cichon S, Anker M, Vogt IR, Rohleder H, Putzstuck M, Hillmer A, Faro KS, Ahmad M, Haque S, Rietschel M, Propping P, Kruse R, Nöthen M. Cloning, genomic organization, alternative transcripts and mutation analysis of the gene responsible for autosomal recessive universal alopecia. Hum Mol Genet 1998; 7: 1671-9.