Background: We describe 4 cases: Three male brothers, the oldest one (20 years) and the younger brothers (15 and 12 years), the fourth case (21 years) female, from the same city (Dar El-Salam); Sohag Governorate, Upper Egypt, presented with cutaneous hypergimentation accompanied by hypertrichosis and induration, acquired hand and foot deformities (hallux valgus), low height, hearing loss, hepatosplenomegaly and heart abnormalities. There was a positive consanguinity between parents in both families. Histopathology of the affected skin was characterized by dermal and subcutaneous interstitial mononuclear infiltrates of histocytosis. Genetic study done for the older brother and the female patient who had positive SLC29A3 gene mutation. High-dose steroid therapy was given with only a short-term improvement.

Guiding symptoms in disease manifestation: Cutaneous hyperpigmentation accompanied by hypertrichosis and induration of average 8-10 years duration in the four patients, typical in the medial thighs, sparing the knees, hearing loss, pigeon chest, heart anomalies, hepatosplenomegaly, lymphadenopathy, and genital Masses In addition to hyperglycemia only in the younger brothers and exophthalmos only in the female patient.

Diagnosis: Laboratory investigations done for four patients with normal CBC except microcytic hypochromic anemia in the female patient, normal blood sugar except hyperglycemia in the younger brothers, elevated ESR, normal liver and kidney functions, normal urine analysis, positive RF, negative other autoimmune diagnostics (ANA, anti DsDNA, Anti SCL 70), normal hormonal profiles. Radiological investigations done with hepatosplenomegaly in abdominal ultrasound, chronic non erosive deforming arthritis in musculoskeletal ultrasound, trivial aortic regurgitation or mitral regurgitation in echo. Histopathology characheterized by infiltrate of histocytosis. Patients had positive SLC29A3 gene mutation in genteic study. The diagnosis of H syndrome was based on the clinical picture and genetic screening.

Therapy: Management of this syndrome is performed by a multidiscpilanry team, which is a rheumatologist, dermatologist and endocrinologist. Management is primarily supportive, a short course of high dose steroids was tried with short term response but discontinued due to side effects. Early screening for associated morbidities (eg DM and CHD) should be performed.

Further progress: Prognosis is variable, but usually progressive. Early death has been described; mostly due to cardiac complications.

Summary: H syndrome is a rare and newly discovered autosomal recessive genodermatosis. It has a multisystemic involvement, and is characterized by a variety of clinical features, most of them start with the letter (H). This syndrome tends to be clustered in certain areas. All our cases were from the same city (Dar El salam); Sohag Governorate, Egypt.