Atrichia congenita with horny cysts Q84.0

Author: Prof. Dr. med. Peter Altmeyer

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Last updated on: 29.10.2020

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Synonym(s)

alopecia congenita totalis; Atrichia congenita diffusa; Atrichia congenita papulosa; Atrichia congenita universalis; atrichia papulosa; Atrichia with papular lesions; Congenital atrichia with papular lesions; MIM 209500; Papular atrichia

History
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Damsté and Prakken, 1954

Definition
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Rare, autosomal dominant (recessive) inherited, permanent, diffuse hairlessness(atrichia), often with absence of nails. Slightly more than 50 families are described.

Etiopathogenesis
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For AUC, as well as for Papular Atrichia (APL), mutations in the so-called hairless gene (HR gene) located on chrosome 8p21-p22 are detected. So far >50 mutations have been detected. Another gene, which is also involved in the hair cycle, is the vitamin D receptor (VDR) gene, which is located on chromosome 12q12-q14. Mutations of this gene can lead to a phenocopy of APL (Betz RC 2014).

Localization
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scalp, eyebrows, eyelashes, nails

Clinical features
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The hair is missing at birth or falls out shortly thereafter, and the follicle openings are detectable. Eyelashes, eyebrows and nails may also be missing. Conspicuous are follicularly bound, papular lesions, which are typical for the clinical picture in addition to atrichia: These are located periorbital, in the neck and in the knee region.

Histology
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The infundibular parts of the hair follicles and sebaceous glands are normal, but hair shafts are missing. Instead of the lower and middle thirds of the hair follicles, small dyskeratotic follicular cysts filled with horn masses are visible.

Therapy
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Causal therapy not possible. Light protection.

Note(s)
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A clinically-morphologically indistinguishable clinical picture is the Atrichia congenita diffusa with vitamin D-dependent rickets, see below Atrichia congenita diffusa with vitamin D-dependent rickets

Literature
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  1. Ahmed MS et al (2013) Identification of novel mutation in the HR gene responsible for atrichia with papular lesions in a Pakistani family. J Dermatol 40: 927-928
  2. Bansal M et al (2011) Atrichia with papular lesions. Int J Trichology 3:112-114
  3. Betz RC (2014) Alopecia and hyoptrichosis in children. dermatologist 56: 520-526
  4. Cichon S et al (1998) Cloning, genomic organization, alternative transcripts and mutational analysis of the gene responsible for autosomal recessive universal congenital alopecia. Hum Mol Genet 7: 1671-1679
  5. Damste TJ et al (1954) Atrichia with papular lesions; a varaant of congenital ectodermal dysplasia. Dermatologica 108: 114-121
    Klein I et al (2002) A novel missence mutation affecting the human hairless thyroid receptor interacting domain 2 causes congenital atrichia. J Invest Dermatol 119: 920-922
  6. Liu L et al (2013) Hairless is a histone H3K9 demethylase. FASEB J. 28:1534-1542

  7. Speaker E et al (1997) Atrichia with papular lesions resulting from a nonsense mutation within the human hairless gene. J Invest Dermatol 113:687-690
  8. Thompson CC, Bottcher MC (1997) The product of a thyroid hormone-responsive gene interacts with thyroid hormone receptors. Proc Natl Acad Sci 94: 8527-8532
  9. Trüb RM et al (1998) Mutation of the human hairless gene in Atrichia universalis. dermatologist 49: 687-689
  10. Zlotogorski A et al (2003) Clinical and pathological correlations in genetically distinct form of atrichia. Arch Dermatol 139: 1591-1596

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Please ask your physician for a reliable diagnosis. This website is only meant as a reference.

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Last updated on: 29.10.2020