Atrichia congenita diffusa with vitamin d-dependent rickets Q84.0; L65.9

Author: Prof. Dr. med. Peter Altmeyer

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Last updated on: 29.10.2020

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Synonym(s)

Atrichia with papular lesions and vitamin D-dependent rickets type IIA

Definition
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Extremely rare, diffuse lack of hair ( atrichia), often with missing nails.

Etiopathogenesis
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mutations of the CYP27B1 gene (gene locus: 12q14). See also Atrichia congenita diffusa; in this case the genetic defect (hairless gene) is located on chromosome 8p21 in the case of identical dermatological clinical picture.

Clinical features
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The hair is missing at birth or falls out shortly thereafter, and the follicular openings are detectable. Eyelashes, eyebrows and nails may also be missing. Remarkable are 0.3-0.8 cm large, skin-coloured papules. Of great clinical importance for this form of diffuse congenital atrichia are the signs of rickets due to a deficiency of the 25-hydroxy-vitamin D3 1-alpha-hydroxylase. The symptoms begin in childhood, usually 2 years after birth, with growth retardation, muscle weakness.

Laboratory
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Serum calcium decreased, parathyroid hormone increased, 1,25-dihydroxycholecalciferol is practically not detectable in serum.

Therapy
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Response to substitution therapy with calcitriol (e.g. Rocaltrol) is prompt.

Literature
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  1. Zlotogorski A et al (2003) Clinical and pathological correlations in genetically distinct form of atrichia. Arch Dermatol 139: 1591-1596

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Last updated on: 29.10.2020