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Background: H syndrome is an autosomal recessive genodermatosis with multisystem involvement caused by mutations in SLC29A3., Objective: We sought to investigate the clinical and molecular findings in 79 patients with this disorder., Methods: A total of 79 patients were included, of which 13 are newly reported cases. Because of the phenotypic similarity and molecular overlap with H syndrome, we included 18 patients with allelic disorders. For 31 patients described by others, data were gathered from the medical literature., Results: The most common clinical features (>45% of patients) were hyperpigmentation, phalangeal flexion contractures, hearing loss, and short stature. Insulin-dependent diabetes mellitus and lymphadenopathy mimicking Rosai-Dorfman disease were each found in approximately 20%. Additional systemic features were described in less than 15% of cases. Marked interfamilial and intrafamilial clinical variability exists. Twenty mutations have been identified in SLC29A3, with no genotype-phenotype correlation., Limitations: In the 31 patients described by others, data were collected from the medical literature., Conclusions: H syndrome is a multisystemic disease with clinical variability. Consequently, all SLC29A3-related diseases should be considered a single entity. Recognition of the pleomorphic nature of H syndrome is important for diagnosis of additional patients., (Copyright © 2013 American Academy of Dermatology, Inc. Published by Mosby, Inc. All rights reserved.)

HyperIgM syndrome is a heterogenous immunodeficiency characterized by impaired class-switch recombination due to different molecular abnormalities. We report on two female patients affected by a novel syndrome associating HIGM, growth and pubertal disturbances, and severe lymphoid hyperplasia with eventual development into lymphomas, suggesting a DNA repair defect.

Reticular dysgenesis is a rare congenital disorder characterized by severe combined immunodeficiency and profound neutropenia, curable to date, only by bone marrow transplantation. This report describes the association of bilateral sensorineural deafness with this disease.

Two siblings born with pleural effusions died of pulmonary insufficiency. The infant born with fetal hydrops at 30 weeks of gestational age lived 45 minutes. The lung weights were mildly hypoplastic on postmortem examination. The sibling, born at 37 weeks of gestational age lived 8 days. Postmortem lung weights were normal, but the infant had a congenital heart anomaly consisting of a complicated vascular ring. Morphometric analysis of both infants indicated relatively normal lungs except for interlobular septal lymphatic hypoplasia, apparently a specific, previously unrecognized cause of fetal pleural effusions.