Τίτλος:
CHILD syndrome: The NSDHL gene and its role in CHILD syndrome, a rare hereditary disorder
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
Background CHILD syndrome, a rare hereditary disorder of keratinization (MIM 308050, 300275), is the acronym proposed by Happle to name a rare entity, characterized by congenital hemidysplasia, icthyosiform nevus and limb defects, ranging from digital hypoplasia to icthyosiform nevus and ipsilateral limb defects, ranging from digital hypoplasia to complete amelia. Patients and methods A 9-month-old female infant presented with skin and limb defects involving the right side of her body. Clinical and laboratory evaluation was performed, including DNA sequence analysis of the NSDHL gene. Results Our patient presented with some of the typical clinical characteristics of CHILD syndrome, i.e. two large erythematous plaques with sharp borders, covered with yellow, wax-like scaling, on the right axilla and on the right groin, dysplastic right hand and alopecia of the right occipital area. The diagnosis was confirmed by DNA screening analysis, that detected a missense mutation c.314C→T;p-A105V, in the coding region of the NSDHL gene (exon4) of our patient. Conclusions This is the first report of CHILD syndrome ever reported in Greece. We suggest that the diagnosis of the syndrome is important for patient information and genetic counselling. © 2009 European Academy of Dermatology and Venereology.
Συγγραφείς:
Avgerinou, G.P.
Asvesti, A.P.
Katsambas, A.D.
Nikolaou, V.A.
Christofidou, E.C.
Grzeschik, K.H.
Happle, R.
Περιοδικό:
Journal of the European Academy of Dermatology and Venereology
Εκδότης:
Wiley-Blackwell Publishing Ltd
Λέξεις-κλειδιά:
chromosome protein; cytosine; reduced nicotinamide adenine dinucleotide phosphate steroid dehydrogenase like protein; thymine; unclassified drug; 3(or 17)beta hydroxysteroid dehydrogenase; Nsdhl protein, human, alopecia; article; case report; clinical examination; clinical feature; DNA sequence; dysplasia; erythema; exon; female; human; human tissue; infant; laboratory test; limb defect; missense mutation; priority journal; rare disease; skin defect; syndrome CHILDS; X chromosome linked disorder; ethnology; genetics; Greece; limb malformation; nevus; syndrome, 3-Hydroxysteroid Dehydrogenases; Erythema; Female; Greece; Humans; Infant; Limb Deformities, Congenital; Mutation, Missense; Nevus; Syndrome
DOI:
10.1111/j.1468-3083.2009.03483.x
