Atrichia congenita diffusa with vitamin d-dependent ricketsQ84.0; L65.9
Synonym(s)
Atrichia with papular lesions and vitamin D-dependent rickets type IIA
DefinitionThis section has been translated automatically.
Extremely rare, diffuse lack of hair ( atrichia), often with missing nails.
EtiopathogenesisThis section has been translated automatically.
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 featuresThis section has been translated automatically.
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.
LaboratoryThis section has been translated automatically.
Serum calcium decreased, parathyroid hormone increased, 1,25-dihydroxycholecalciferol is practically not detectable in serum.
TherapyThis section has been translated automatically.
Response to substitution therapy with calcitriol (e.g. Rocaltrol) is prompt.
LiteratureThis section has been translated automatically.
- Zlotogorski A et al (2003) Clinical and pathological correlations in genetically distinct form of atrichia. Arch Dermatol 139: 1591-1596