Non-syndromic alopecia-hypotrichosis and congenital hair loss [49 genes]

Several genetic diseases cause hypotrichosis, alopecia, or congenital hair loss, although genetic causes are rare compared to acquired forms.

Some of the main diseases covered in this service are the following:
Hypotrichosis – Alopecia:

• Atrichia with papular lesions and alopecia universalis.
• Hereditary hypotrichosis simplex.
• Cartilage-hair hypoplasia.
• Hypotrichosis-ichthyosis syndrome.
• Other rare diseases.

Congenital hair loss:

• Trichorrhexis nodosa (Pollitt Syndrome).
• Pili torti.
• Menkes disease.
• Moniliform hair syndrome (Monilethrix).
• Trichothiodystrophy.
• Uncombable hair syndrome.

• Atrichia with papular lesions: unknown.
• Hereditary hypotrichosis simplex: <1 / 1,000,000.
• Cartilage-hair hypoplasia: unknown.
• Hypotrichosis-ichthyosis syndrome: <1 / 1,000,000.
• Pollit syndrome: unknown.
• Pili torti: unknown.
• Menkes disease: 1/300,000 and 1/360,000.
• Moniliform hair syndrome: unknown.
• Trichothiodystrophy: unknown.
• Uncombable hair syndrome: unknown.

Recommended service when, after ruling out other possible causes, a genetic origin of the patient’s hair loss or congenital hypotrichosis is suspected, whether it is an isolated event or associated with other cutaneous or extracutaneous manifestations.

The benefits derived from a genetic diagnosis in this context can range from family genetic counseling, typical of genetic studies in general, to the prevention of comorbidities in syndromic patients.

Service indicated when, during the dermatological examination, hypotrichosis or congenital hair loss of probable genetic origin is evident based on the age of onset, the accompanying clinical signs and the remaining clinical history.