Conradi-Hünermann syndrome with unilateral distribution.
Conradi-Hünermann syndrome is a type of chondrodysplasia punctata characterized by skeletal, cutaneous, and ocular anomalies. Genetic heterogeneity and incomplete penetrance may explain the wide clinical spectrum. We report a 7-day-old girl, product of a preterm pregnancy and delivery, with ichthyosiform erythroderma on the right half of the body at birth, as well as patchy cutaneous involvement of the contralateral side. On physical examination, we observed an ipsilateral shortening of the leg and a lenticular opacity of the right eye. Histopathologic study showed parakeratotic hyperkeratosis with prominent follicular involvement and atrophy of the granular and spinous layers. The skin eruption disappeared during the first 2 months. At 2 months of age, radiologic examination revealed stippled calcifications in the ribs, vertebral, and paravertebral areas. The most important differential diagnosis was CHILD syndrome. We emphasize the importance of the histopathologic study in the differential diagnosis of both syndromes.
Corbí
M R
MR
University School of Medicine, Virgen del Rocío University Hospital, Seville, Spain.
Conejo-Mir
J S
JS
Linares
M
M
Jiménez
G
G
Rodríguez Cañas
T
T
Navarrete
M
M
D002806:Chondrodysplasia Punctata / Q000151:congenital / Q000175:diagnosis* / Q000473:pathology; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007234:Infant, Premature; D007235:Infant, Premature, Diseases / Q000175:diagnosis* / Q000473:pathology; D012867:Skin / Q000473:pathology; D012871:Skin Diseases / Q000151:congenital / Q000175:diagnosis / Q000473:pathology; D013577:Syndrome