Familial Multiple Nevi Flammei

Shelley, Walter B.

doi:10.1001/archderm.1949.01520280095013

Cited by 27 publications

(8 citation statements)

References 4 publications

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“…Familial occurrence of multiple CMs was first described by Shelley and Livingood (1949). Since then a limited number of similar families were published, suggesting autosomal dominant inheritance with variable expression (reviewed in Breugem et al 2001).…”

Section: Introductionmentioning

confidence: 99%

A locus for hereditary capillary malformations mapped on chromosome 5q

et al. 2002

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Capillary malformations (port-wine stains) are the most common vascular malformations occurring in 0.3% of live births. Most capillary malformations occur sporadically and present as a solitary lesion. Capillary malformations can also occur as a component of well-described syndromes. Familial occurrence of multiple capillary malformations has been described in the literature, suggesting autosomal dominant inheritance with variable expression in this subgroup. A hereditary basis underlying the development of solitary capillary malformations has not been found, but may well be possible. We have mapped a locus for an autosomal dominant disorder in a three-generation family that manifested itself with multiple cutaneous capillary malformations to chromosome 5q13-22. This locus spans 48 cM between the markers D5S647 and D5S659 and harbours several candidate genes. By defining the gene(s) responsible for capillary malformations, we will gain more insight in the pathogenesis of this disorder. It is likely that genes implicated in these familial cases may be involved in the more sporadic cases.

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Section: Introductionmentioning

confidence: 99%

A locus for hereditary capillary malformations mapped on chromosome 5q

et al. 2002

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“…The occurrence of LTN in phacomatosis pigmentovascularis type IVa in a mother and daughter has been described by Hasegawa & Yasuhara (1985). Multiple LTN have been reported by Shelley & Livingood (1949) in a family in which 12 members had numerous vascular malformations on various areas on the skin in four generations. Kaplan et al, in 1976, presented a family with multiple LTN in six members in three generations.…”

Section: Pasykmentioning

confidence: 99%

Familial multiple lateral telangiectatic nevi (port‐wine stains or nevi flammei)

Pasyk

1992

Clinical Genetics

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Pasyk KA. Familial multiple lateral telangiectatic nevi (port‐wine stains or nevi flammei) Clin Genet 1992:41: 197–201. Two families with multiple lateral telangiectatic nevi (LTN) (port‐wine stains or nevi flammei) in various areas of the body in two and three generations are presented. In the second family, some members in addition to LTN also had superficial (strawberry) hemangiomas and hemangioma‐like venous malformations. The pedigrees of these families indicate auto‐somal dominant inheritance of multiple LTN.

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“…CM‐AVM syndrome is inherited as a variable autosomal dominant condition. Familial occurrence of multiple CMs was first described in 1949 by Shelley et al . and causative mutations in the RASA1 gene were discovered in 2003 by Eerola et al .…”

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confidence: 99%