This Article  • Full text  • PDF  • Send to a friend  • Save in My Folder  • Save to citation manager  • Permissions  Citing Articles  • Citation map  • Contact me when this article is cited  Related Content  • Similar articles in this journal  Topic Collections  • Nutritional and Metabolic Disorders  • Nutrition/ Malnutrition  • Dermatologic Disorders  • Dermatologic Disorders, Other  • Genetics  • Genetic Disorders  • Alert me on articles by topic  Social Bookmarking   What's this?

Thais H. Sakuma, MD; Gunter Hans-Filho, MD, PhD; Ken Arita, MD; Maçanori Odashiro, MD; Danilo N. Odashiro, MD; Nelise R. Hans; Gunter Hans-Neto; John A. McGrath, MD

Arch Dermatol. 2009;145(6):695-699.

Background  Macular and lichen amyloidosis are clinical variants of primary localized cutaneous amyloidosis (PLCA). Most cases are sporadic, but approximately 10% of cases may be familial. To our knowledge, the clinicopathologic and molecular features of such pedigrees, however, have not been studied in detail.

Observations  We assessed 2 Brazilian families with either lichen-type (family 1 had 14 affected subjects) or macular-type (family 2 had 7 affected subjects) PLCA. Typically, in both pedigrees, the onset of symptoms was around puberty, and pruritus usually began on the lower legs. Findings from lesional skin biopsy samples from both families showed thioflavin T–positive material in the papillary dermis, which was more prominent in the lichen phenotype in family 1. Spontaneous improvement occurred in 3 subjects (from both families) after age 25 years. All affected individuals in family 1 had a heterozygous missense mutation in the OSMR gene (p.I691T), but no pathogenic mutation in OSMR was found in family 2.

Conclusions  Familial PLCA shows autosomal dominant inheritance, but there is clinical and genetic heterogeneity and variable clinical penetrance. Demonstration of mutations in the OSMR gene provides new insight into mechanisms of itch and apoptosis in human skin.

Author Affiliations: Department of Dermatology (Drs Sakuma and Hans-Filho) and Pathology (Drs M. Odashiro and D. N. Odashiro), Federal University of Mato Grosso do Sul, Campo Grande, Brazil; Department of Dermatology, Federal University of the State of Rio de Janeiro, Rio de Janeiro, Brazil (Dr Sakuma); Genetic Skin Disease Group, St John's Institute of Dermatology, Division of Genetics and Molecular Medicine, The Guy’s, King's College, and St Thomas' School of Medicine, London, England (Drs Arita and McGrath); Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan (Dr Arita); and University for the Development of the State and Pantanal Region, Campo Grande, Brazil (Ms Hans and Mr Hans-Neto).

CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    Twitter     What's this?