Segmental Neurofibromatosis with Visceral Neurofibromas

Jang, Hee Won; Ryu, Hwa Jung; Kim, Il Hwan; Son, Sang Wook

doi:10.5021/ad.2016.28.2.253

Cited by 1 publication

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References 6 publications

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“…[34][35][36] Moreover, T2SM may involve the brain, 37 eye and orbita, [38][39][40] bones and joints, [41][42][43][44] parotis, 45 thyroid, 46 larynx, 47 trachea, 48 lung, 49 heart, 41,49,50 oesophagus, 51 upper gastro-intestinal tract ( Fig. 3), 49,52,53 rectum, 54,55 liver, 56,57 gall bladder, 58 pancreas, 56 retroperitoneum 59 and bladder. 60…”

Section: Introductionmentioning

confidence: 99%

The concept of type 2 segmental mosaicism, expanding from dermatology to general medicine

Happle

2018

Acad Dermatol Venereol

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In autosomal dominant skin disorders, the well-known type 1 segmental mosaicism reflects heterozygosity for a postzygotic new mutation. By contrast, type 2 segmental mosaicism originates in a heterozygous embryo from an early postzygotic mutational event giving rise to loss of the corresponding wild-type allele, which results in a pronounced segmental involvement being superimposed on the ordinary, non-segmental phenotype. Today, this concept has been proven by molecular analysis in many cutaneous traits. The purpose of this review was to seek publications of cases suggesting an extracutaneous manifestation of type 2 segmental mosaicism. Case reports documenting a pronounced extracutaneous segmental involvement were collected from the literature available in PubMed and from personal communications to the author. Pertinent cases are compared to the description of cutaneous segmental mosaicism of type 1 or type 2 as reported in a given trait. In total, reports suggesting extracutaneous type 2 segmental mosaicism were found in 14 different autosomal dominant skin disorders. In this way, clinical evidence is accumulated that extracutaneous type 2 segmental mosaicism does likewise occur in many autosomal dominant skin disorders. So far, however, molecular proof of this particular form of mosaicism is lacking. The present review may stimulate readers to inform colleagues of other specialties on this new concept, in order to initiate further research in this particular field of knowledge that has important implications for diagnosis, treatment and genetic counselling.

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Section: Introductionmentioning

confidence: 99%

The concept of type 2 segmental mosaicism, expanding from dermatology to general medicine

Happle

2018

Acad Dermatol Venereol

View full text Add to dashboard Cite

show abstract

Segmental Neurofibromatosis with Visceral Neurofibromas

Cited by 1 publication

References 6 publications

The concept of type 2 segmental mosaicism, expanding from dermatology to general medicine

The concept of type 2 segmental mosaicism, expanding from dermatology to general medicine

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