Lethal chondrodysplasia punctata, Conradi Hünermann subtype A, one case.
Lethal Conradi Hünermann disease is described in a patient with severe skin and skeletal involvement. Skin lesions, now considered as a peculiar form of ichthyosis, consisted of adnexal and pilar follicle hyperkeratosis, polymorphonuclear exocytosis, irregular keratohyaline distribution and frequent paranuclear vacuoles in stratum Malpighi. Numerous chondrocyte clusters and calcified masses were found in the epiphyseal cartilage. The growth plate was disorganised. There was a bilateral cataract. This severe lethal form of Conradi Hünermann disease corresponds to the subgroup A denomination of Spranger and may be a severe manifestation of X-linked Chondrodysplasia punctata.
D001842:Bone and Bones / Q000473:pathology; D002356:Cartilage / Q000473:pathology*; D002806:Chondrodysplasia Punctata / Q000150:complications / Q000473:pathology*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007908:Lens, Crystalline / Q000473:pathology; D012867:Skin / Q000473:pathology; D012871:Skin Diseases / Q000209:etiology / Q000473:pathology