H SYNDROME

By Gary M. White, MD


H syndrome is an autosomal recessive genodermatosis characterized by hyperpigmentation, hypertrichosis, hepatosplenomegaly, hearing loss, heart anomalies, hypogonadism, low height (short stature), hyperglycemia/diabetes mellitus, and hallux valgus/flexion contractures--thus the name.

References

A 29-year-old man presented with progressive sclerodermatous induration of the upper and lower extremities beginning at the age of 21 years. In addition, he had had sensorineural hearing loss since the age of 7 years and insulin-dependent diabetes mellitus since the age of 10 years, as well as recurrent febrile episodes. Acta Derm Venereol 2015; 95: 1021–1023

Journal of the American Academy of Dermatology Volume 70, Issue 1, Pages 80–88, January 2014

RegionalDerm

Homepage | FAQs | Use of Images | Contact Dr. White


It is not the intention of RegionalDerm.com to provide specific medical advice, diagnosis or treatment. RegionalDerm.com only intends to provide users with information regarding various medical conditions for educational purposes and will not provide specific medical advice. Information on RegionalDerm.com is not intended as a substitute for seeking medical treatment and you should always seek the advice of a qualified healthcare provider for diagnosis and for answers to your individual questions. Information contained on RegionalDerm.com should never cause you to disregard professional medical advice or delay seeking treatment. If you live in the United States and believe you are having a medical emergency call 911 immediately.