Mosaicism due to postzygotic mutations in women with focal dermal hypoplasia

2018 ◽  
Vol 180 (3) ◽  
pp. 657-661 ◽  
Author(s):  
L. Heinz ◽  
E. Bourrat ◽  
P. Vabres ◽  
J. Thevenon ◽  
A. Hotz ◽  
...  
Keyword(s):  
Focal Dermal Hypoplasia ◽  
Postzygotic Mutations

Focal dermal hypoplasia. A nine-year follow-up study

1973 ◽  
Vol 108 (4) ◽  
pp. 551-553 ◽  
Author(s):  
S. K. Gottlieb
Keyword(s):  
Follow Up Study ◽  
Focal Dermal Hypoplasia

Focal dermal hypoplasia syndrome. A review of the literature and report of two cases

1970 ◽  
Vol 101 (1) ◽  
pp. 1-11 ◽  
Author(s):  
R. W. Goltz
Keyword(s):  
Review Of The Literature ◽  
Focal Dermal Hypoplasia

Focal dermal hypoplasia syndrome. An update

1992 ◽  
Vol 128 (8) ◽  
pp. 1108-1111 ◽  
Author(s):  
R. W. Goltz
Keyword(s):  
Focal Dermal Hypoplasia

Mangrove Genetics. IV. Postzygotic Mutations Fixed as Periclinal Chimeras

1996 ◽  
Vol 157 (4) ◽  
pp. 398-405 ◽  
Author(s):  
Edward J. Klekowski, ◽  
Robin Lowenfeld ◽  
Elizabeth H. Klekowski
Keyword(s):  
Periclinal Chimeras ◽  
Postzygotic Mutations

Osteopathia striata and focal dermal hypoplasia

1979 ◽  
Vol 4 (4) ◽  
pp. 223-227 ◽  
Author(s):  
D. Knockaert ◽  
J. Dequeker
Keyword(s):  
Focal Dermal Hypoplasia ◽  
Osteopathia Striata

Becker's Nevus Syndrome

2018 ◽  
Vol 16 (05) ◽  
pp. 352-361 ◽  
Author(s):  
Maria Cucuzza ◽  
Sara Paternò ◽  
Stefano Catanzaro ◽  
Agata Polizzi ◽  
Carmelo Schepis ◽  
...  
Keyword(s):  
Natural History ◽  
Soft Tissues ◽  
Cutaneous Lesion ◽  
Simultaneous Occurrence ◽  
Pectus Carinatum ◽  
Epidermal Nevus ◽  
Becker’S Nevus ◽  
History Of ◽  
Prepubertal Boys ◽  
Postzygotic Mutations

The simultaneous occurrence of a patch of light or dark brown hyperpigmentation with hypertrichosis (Becker's nevus) together with (usually ipsilateral) soft tissues hypoplasia (especially breast, in women) and underlying skeletal anomalies (i.e., vertebral hypoplasia, scoliosis, pectus carinatum or excavatum) represents the Becker's nevus syndrome (BNS) phenotype. It was first described (as a single cutaneous lesion) by Becker in 1949 and then associated with the surrounding musculoskeletal disorders. The syndrome has also been reported as pigmentary hairy epidermal nevus syndrome. Less than 100 cases have been reported in the literature, with a slightly higher incidence in females and only few familiar cases: paradominant postzygotic mutations and/or an androgen-dependent hyperactivation have been reported as the causes of the diseases.The extracutaneous lesions are congenital and nonprogressive, and the natural history of the Becker's nevus is the same as that of isolated nevi: in prepubertal boys, the pigmentation may be less intense and the hairiness may be absent or mild, as occurs in women, whereas in men, there is an increase of hairiness after puberty. The treatment is essentially cosmetic, and potential therapeutic options include electrolysis, waxing, makeup, or laser.

Focal dermal hypoplasia syndrome in a male

2008 ◽  
Vol 7 (4) ◽  
pp. 325-327 ◽  
Author(s):  
Maria A. Toro-Sola ◽  
Mildred L. Kistenmacher ◽  
Hope H. Punnett ◽  
Angelo M. DiGeorge
Keyword(s):  
Focal Dermal Hypoplasia

Cutis Tricolor

2018 ◽  
Vol 16 (05) ◽  
pp. 276-281
Author(s):  
Martino Ruggieri ◽  
Agata Polizzi ◽  
Selene Mantegna ◽  
Chiara Battaglini ◽  
Concetta Pirrone ◽  
...  
Keyword(s):  
Normal Skin ◽  
Distinct Type ◽  
Skin Lesions ◽  
Nasal Bridge ◽  
Phacomatosis Pigmentovascularis ◽  
Skeletal Defects ◽  
Skin Abnormalities ◽  
Vertebral Defects ◽  
Postzygotic Mutations ◽  
Over Time

AbstractCutis tricolor is a skin abnormality consisting in a combination of congenital hyper- and hypopigmented skin lesions (in the form of paired macules, patches, or streaks) in close proximity to each other in a background of normal skin. It is currently regarded as a twin-spotting (mosaic) phenomenon. This phenomenon has been reported so far as a purely cutaneous trait, as a part of a complex malformation phenotype (Ruggieri–Happle syndrome), which includes distinct facial features, cataract, skull and vertebral defects, long bones dysplasia, corpus callosum, cerebellar and white matter anomalies, cavum vergae and holoprosencephaly, and other systemic abnormalities. Cutis tricolor has been also reported as a distinct type with multiple, disseminated smaller skin macules (cutis tricolor parvimaculata) or in association with other skin disturbances (e.g., phacomatosis achromico-melano-marmorata) or in the context of other neurocutaneous phenotypes (e.g., ataxia-telangiectasia and phacomatosis pigmentovascularis) or as a sign of complex malformation phenotypes (e.g., microcephaly and dwarfism). More than 20 studies reporting 40 cases are present in the literature with pure cutaneous or syndromic cutis tricolor phenomena and are analyzed in the present study, confirming and expanding the overall phenotype of cutis tricolor. In particular, (1) the skin abnormalities of the cutis tricolor do not evolve over time; (2) there is a typical facial phenotype with long, elongated face, thick and brushy eyebrows, hypertelorism, deep nasal bridge with large bulbous nose, and anteverted nostrils; (3) the skeletal defects are mild-to-moderate and do not progress or cause relevant orthopedic complications; (4) the neurological/behavioral phenotype does not progress and the paroxysmal events (if present) tend to decrease over time; (5) only three patients developed early onset (treatable) cataracts. Different pathologic hypotheses have been postulated, including, early or late postzygotic mutations involving the same gene loci (in the context of the so-called dydymotic theory): such mechanisms can explain the overall skin, bone, lens, and nervous system phenomena of migration of different streaks of clones in the different tissues.

scholarly journals Focal dermal hypoplasia: A rare case report

2015 ◽  
Vol 60 (1) ◽  
pp. 106 ◽  
Author(s):  
SahanaM Srinivas ◽  
Ravi Hiremagalore
Keyword(s):  
Case Report ◽  
Rare Case ◽  
Focal Dermal Hypoplasia ◽  
Rare Case Report

scholarly journals Genetic studies in the focal dermal hypoplasia of Goltz syndrome

1999 ◽  
Vol 1 (2) ◽  
pp. 63-63
Author(s):  
R E Schnur ◽  
L A Reed ◽  
K A Mockridge ◽  
M Geo
Keyword(s):  
Genetic Studies ◽  
Focal Dermal Hypoplasia ◽  
Goltz Syndrome
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