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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 444
A rare autosomal dominant hair loss disorder characterized by the absence or scarcity of scalp hair, eyebrows, and eyelashes at birth; coarse and wiry hair during childhood; and progressive hair loss beginning around puberty.
Prevalence and incidence are unknown.
Affected individuals of both sexes are typically born with an absence or scarcity of scalp hair, eyelashes, and eyebrows. During early childhood the scalp hair becomes coarse and wiry. Loss of scalp hair begins around puberty in a pattern resembling that of androgenetic alopecia and progresses to almost total alopecia. Body, axillary, and pubic hair is sparse or absent as is beard hair in men and adolescent boys. No other ectodermal abnormalities are observed.
MUHH is due to mutations in U2HR , an inhibitory upstream open reading frame of the HR gene located to 8p21.2, causing a gain of function of HR. Worldwide, more than 15 different U2HR mutations have been identified in nearly 30 affected families and sporadic cases. Recently, a missense mutation in EPS8L3 , located on chromosome 1p13.2, was identified in a Chinese family with MUHH.
Diagnosis depends on clinical and microscopic examination and can be confirmed by mutational analysis of U2HR. Scanning electron microscopic study of the hair reveals irregular twisting, longitudinal ridging and cuticle peeling. Scalp biopsy shows a marked reduction in the number of follicles with follicular fibrosis. However, the small number of biopsies analyzed makes it difficult to obtain an objective impression.
Differential diagnoses include hypotrichosis simplex, loose anagen syndrome, uncombable hair syndrome, ectodermal dysplasia syndromes (see these terms), congenital atrichia, androgenetic alopecia and alopecia areata.
Antenatal diagnosis can be performed but is the exception, as MUHH is not a life-threatening disease. Therefore in practice, this is handled in quite a restrictive manner.
There is a 50% recurrence risk for offspring of affected individuals as transmission is autosomal dominant.
Management and treatment
No curative treatment exists for MUHH.
Life expectancy is normal but quality of life can be reduced due to the psychological impact related to the hair phenotype.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
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