Case 19
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Case 19. A 9-year-old boy with sensorineural hearing loss was seen with h yperpigmented and indurated plaques involving the lower abdomen, scrotum, thighs and lower legs. He had also alopecia totalis, low height, hepatosplenomegaly, hypogonadism and hyperglycemia. Case 19. Diagnosis.

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Case 19

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Case 19

Case 19

A 9-year-old boy with sensorineural hearing loss was seen with hyperpigmented and indurated plaques involving the lower abdomen, scrotum, thighs and lower legs. He had also alopecia totalis, low height, hepatosplenomegaly, hypogonadism and hyperglycemia.


Case 19

Case 19. Diagnosis

  • The H syndrome.


Case 19

CD68


Case 19

CD79a


Case 19

Genodermatosis with autosomal recessive inheritance. Mutations in the SLC29A3 gen of the chromosome 10q21.3-q22, which encodes the human equilibrative nucleoside transporter 3 (hENT3).Dermatologic findings: Hyperpigmented, hypertrichotic and hard plaques on the thighs and lower legs.Systemic manifestations: Sensorineural hearing loss, low height, heart anomalies, hepatosplenomegaly, scrotal masses, hypogonadism and hyperglycemia.

The H syndrome

Clinical features


Case 19

Hyperpigmentation of the basal layer of the epidermis.Dermal and mostly septal subcutaneous infiltrates of histiocytes, mast cells and plasma cells.Large pale histiocytes express CD68 and S-100 protein.Lymphoid aggregates express B-cell markers (CD20 and CD79a).

The H syndrome

Histopathologic features


Case 19

Am J Hum Genet 2008;83:529-34.


Case 19

S100


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