Angioma Serpiginosum Arranged in a Systematized Segmental Pattern Suggesting Mosaicism

Chen, WenChieh; Liu, Ta-Ju; Yang, Yi‐Chien; Happle, Rudolf

doi:10.1159/000095043

Cited by 19 publications

(27 citation statements)

References 30 publications

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“…Typical lesions are predominantly distributed over the lower limbs or buttocks [2,4] . Mosaicism as the underlying mechanism involved in the pathogenesis of angioma serpiginosum was suggested in 1 case [5] . Physical examination revealed irregular, well-defined confluent areas of violaceous erythema with multiple, nonblanching, dark red, pinhead-sized punctate lesions distributed over both arms and legs and the chest, abdomen, back, neck and face ( fig.…”

Section: Introductionmentioning

confidence: 99%

Angioma Serpiginosum with Extensive Lesions Associated with Retinal Vein Occlusion

Tsuruta¹,

Someda²,

Sowa³

et al. 2006

Dermatology

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Section: Introductionmentioning

confidence: 99%

Angioma Serpiginosum with Extensive Lesions Associated with Retinal Vein Occlusion

Tsuruta¹,

Someda²,

Sowa³

et al. 2006

Dermatology

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“…In recent years, a considerable number of dermatological diseases has been suspected to be caused by cutaneous mosaicism [8, 9]. Up to now, mosaicism at the cytogenetic or molecular level has been proven in over 15 segmentally arranged skin disorders [10].…”

Section: The Proposed Etiology: Genetic Mosaicismmentioning

confidence: 99%

The Venous Nevus: A Distinct Vascular Malformation Suggesting Mosaicism

Zietz

Happle²,

Hohenleutner³

et al. 2007

Dermatology

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Background: Venous malformations are common vascular anomalies which only occur sporadically. Objective: We present a series of 25 patients with extratruncular venous malformations of the skin or the neighboring mucosa that are arranged in a segmental pattern. Results: All lesions were sporadic and mostly unilateral. According to the extent of the vascular malformation, two subgroups were defined: large- to medium-sized and small localized lesions (‘acrofacial distribution’). In large- or medium-sized lesions, we noted a strict midline separation of the disorder. Thus, we assume that this segmental arrangement reflects genetic mosaicism. Conclusions: This type of venous malformation originates from a postzygotic mutation that occurs at an early developmental stage. Hence, the type of vascular disorder present in our 25 patients seems to fulfil each criterion of the term ‘nevus’. This vascular nevus should be distinguished from other forms of venous malformations such as the varicose veins associated with the Klippel-Trénaunay syndrome, the dermal nodules of the blue rubber bleb nevus syndrome and the vascular skin lesions of the Maffucci syndrome. Thus, we propose the new term ‘venous nevus’ or ‘nevus venosus’.

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“…AS is often arranged in an asymmetric or otherwise segmental distribution, which, on rare occasions, may even be reminiscent of Blaschko's lines, but such cases have so far always been sporadic. 7 In familial cases of AS, the involvement is rather symmetric and nonsegmental. 7 So far, there is not the slightest indication that AS can be inherited as an X-linked trait.…”

mentioning

confidence: 99%

“…7 In familial cases of AS, the involvement is rather symmetric and nonsegmental. 7 So far, there is not the slightest indication that AS can be inherited as an X-linked trait.…”

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confidence: 99%

“…(iii) An X-linked transmission limited to females is characteristic of FDH but not compatible with AS that is most likely caused by an autosomal gene. 7 (iv) When AS shows a mosaic arrangement, a familial occurrence has so far never been reported. We are honoured by the attention given by Professor Happle to our recent papers on angioma serpiginosum (AS) and PORCN mutations.…”

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confidence: 99%

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