[CDAGS syndrome (craniostenosis, deafness, anal abnormalities and genitourinary malformations with skin rash)]

Abstract

Introduction: CDAGS syndrome (craniosynostosis, deafness, anal and genitourinary abnormality with rash) has been reported in 8 families of different geographical origins since 1981. No genes have been identified to date.

Patients and methods: The patient is a girl born at 40 weeks of amenorrhea after a normal pregnancy. She was born to non-consanguineous parents and there was no significant family history. At birth, she presented craniosynostosis with a form of premature coronal suture. When she was 3 months old, she presented an eczematous facial rash. At 11 months, a skin biopsy showed lichenoid dermatosis with epidermal atrophy associated with ortho- and para-keratotic hyperkeratosis. She had sparse hair, eyelashes and eyebrows. Her initial psychomotor development was normal. No other malformations were observed. At 6 years, she presented pale pink, reticulated, erythematous plaques around healthy bands of skin on her throat and chin. Lesions on the elbows, knees and buttocks were linear and keratotic with no atrophy or telangiectasia. At 7 years, she had learning difficulties and delayed speech. Genetic assessment revealed no abnormalities.

Discussion: The specific dermatologic aspect combined with craniosynostosis suggested a possible diagnosis of CDAGS syndrome, even in the absence of urogenital or anal lesions. This syndrome may take numerous different forms. The appearance of porokeratosis previously noted was not found here. The underlying genetic substratum of this syndrome is not known as yet and additional genetic studies should be considered.

Keywords: CDAGS; Craniosténose; Craniosynostosis; Porokeratosis; Porokératose.