Cutaneous sarcoid-like granulomas in a child known with Nijmegen breakage syndrome

Nijmegen Breakage Syndrome [NBS] is a rare autosomal recessive disorder with specific clinical features, characteristic chromosomal breakage and combined imunodeficiency. Patients with this condition also associate growth retardation with microcephaly, predisposition to malignancy and specific skin manifestations. Here we report a 3-year old girl known with NBS associated with cutaneous sarcoid-like lesions. She presented with one year history of squamous lesions on the face and upper and lower limbs. The lesions were biopsied and histopatological examination revealed nonnecrotizing epitheloid granulomas and raised the suspicion of a sarcoid-like entity. The interest of this case will serve to better understand clinical manifestations in a rare genetic entity. Close follow-up is advised as cutaneous granulomas may be the first manifestation of systemic granulomas

Ectodermal dysplasia showing the clinical overlap between Hay Wells syndrome and Bowen Armstrong syndrome

Several clinical entities combine ectodermal dysplasia [ED] and cleft lip and/or palate [CL/P]. These disorders have been recognized with a narrow phenotypic spectrum and very similar clinical features. We report a case with a clinical diagnosis of Hay Wells syndrome [ankyloblepharon, ED and CL/P], who is a descendent of a mother with Bowen Armstrong syndrome [ED, CL/P, mental retardation]. Due to the clinical similarities, we suggest that Hay Wells syndrome and Bowen Armstrong syndrome may be the same clinical entity with variable manifestations. This case highlights the difficulties in trying to classify the ED syndromes on clinical features