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Congenital generalized hypertrichosis associated with gingival hyperplasia are rare cases published in literature. The frequency incidence of generalized congenital hypertrichosis is about one to billions of people. Hypertrichosis and gingival hyperplasia are termed as Ambras syndrome (AS), which can be noticed at birth or soon after. Here, is a rare case report of 4-year-old male child who presented with generalized hypertrichosis with gingival fibromatosis and dysmorphic facial features. [ABSTRACT FROM AUTHOR]

Tadin-Strapps M, Warburton D, Salas-Alanis JC, Lopez-Cepeda LD, Christiano AM. Fishing for new genes in skin biology: impact of cytogenetics on gene discovery. Research into the field of skin biology has grown exponentially over the past two decades. Even though the fundamental molecular pathways are still not fully understood, there have been significant advances in our understanding of the underlying mechanisms involved in the pathogenesis of genodermatosis. The cloning of many candidate genes involved in the etiology of skin diseases has been facilitated by initial cytogenetic evidence. This review will synthesize recent findings that led to the discovery of candidate genes for anhidrotic ectodermal dysplasia, Williams-Beuren syndrome, neurofibromatosis-I and tricho-rhino-phalangeal syndrome. [ABSTRACT FROM AUTHOR]

Ambras syndrome, a form of congenital hypertrichosis lanuginosa, is extremely rare in neonates. It is characterized by typical pattern of hair distribution, dysmorphic facial features and a familial pattern of inheritance. We report a case of Ambras syndrome in a preterm neonate with history of consanguinity and positive family history. [ABSTRACT FROM AUTHOR]