Overlap of dyskeratosis congenita with the Hoyeraal-Hreidarsson syndrome

• Published in: The Journal of pediatrics Vol. 136; no. 3; pp. 390 - 393
• Main Authors: Yaghmai, Reza, Kimyai-Asadi, Arash, Rostamiani, Karoline, Heiss, Nina S., Poustka, Annemarie, Eyaid, Wafaa, Bodurtha, Joann, Nousari, Hossein C., Hamosh, Ada, Metzenberg, Aida
• Format: Journal Article
• Language: English
• Published: New York, NY Mosby, Inc 01.03.2000; Elsevier
• Subjects: Biological and medical sciences; Cell Cycle Proteins - genetics; Cerebellum - abnormalities; Child, Preschool; Dermatology; Dyskeratosis Congenita - complications; Dyskeratosis Congenita - genetics; Fetal Growth Retardation - complications; Hereditary diseases of the skin. Congenital diseases of the skin. Haemangioma of the skin, of mucosae and of soft tissue; Humans; Intellectual Disability - complications; Male; Medical sciences; Microcephaly - complications; Mutation; Nuclear Proteins - genetics; Pancytopenia - complications; Syndrome; HHS; IUGR; MR; DKC; Cerebellum; Skin disease; Intrauterine growth retardation; Pregnancy disorders; Pathogenesis; Hyperkeratosis; Hemopathy; Developmental disorder; Microcephaly; Mental retardation; Genetic determinism; Fetal diseases; Cerebellar disease; Gene; Hoyeraal Hreidarsson syndrome; Dyskeratosis congenita; Complex syndrome; Child; Human; Nervous system diseases; Pigmentation disorder; Stomatology; Congenital disease; Differential diagnostic; Cerebral disorder; Genetic disease; Case study; Concomitant disease; Phenotype; Malformation; Pancytopenia; Central nervous system disease; Intellectual deficiency; Mutation
• ISSN: 0022-3476; 1097-6833
• DOI: 10.1067/mpd.2000.104295

X-linked dyskeratosis congenita (DKC) is characterized by mucosal leukoplakia and ulcerations, skin abnormalities, nail dystrophy, and pancytopenia. Hoyeraal-Hreidarsson syndrome (HHS) includes intrauterine growth retardation, microcephaly, mental retardation, cerebellar malformation, and pancytopenia. A patient with striking features of both HHS and DKC has a de novo mutation in the DKC1 gene, known to be responsible for DKC. HHS may be a severe form of DKC, in which affected individuals die before characteristic mucocutaneous features develop. (J Pediatr 2000;136:390-3)