Ulerythema ophryogenesis
Overview
A rare genetic disorder involving a slowly spreading redness of the eyebrows and cheeks followed by damage to the skin and loss of eyebrows.
Symptoms
Keratotic papules Scars Atrophy Alopecia Hyperkeratosis
Causes
The true cause of ulerythema ophryogenes remains unknown. In a few families, this disorder is inherited in an autosomal dominant pattern. A molecular defect has so far not been elucidated, but certain clues are emerging as ulerythema appears as a trait in different syndromes. Possible molecular defects are mentioned in ulerythema ophryogenes associated with more serious conditions such as Cornelia de Lange syndrome or Noonan syndrome, such as a deletion of the short arm of chromosome 18p caused by Y/18 translocation.4, 5 Zouboulis et al even claim that the LAMA1 gene is involved6; however, Klein et al propose a 12q deletion as the cause of the condition.7 The Medscape Genomic Medicine Resource Center may be of interest.
Diagnosis
The signs and symptom information on this page attempts to provide a list of some possible signs and symptoms of Ulerythema ophryogenesis. This medical information about signs and symptoms for Ulerythema ophryogenesis has been gathered from various sources, may not be fully accurate, and may not be the full list of Ulerythema ophryogenesis signs or Ulerythema ophryogenesis symptoms. Furthermore, signs and symptoms of Ulerythema ophryogenesis may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they are indeed Ulerythema ophryogenesis symptoms.