Angioma serpiginosum is not caused by PORCN mutations

Happle, Rudolf

doi:10.1038/ejhg.2009.55

Cited by 15 publications

(5 citation statements)

References 7 publications

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“…From our study, linear skin lesions/pigmentations combined with dermal atrophy/hypoplasia dermal findings do not seem to be sufficient to screen for PORCN mutations. However, mutation analysis of PORCN gene should also be considered in patients with characteristic isolated skin abnormalities, as has been discussed very recently regarding patients with angioma serpiginosum or FDH (16)(17)(18). No mutations were found in FIN3, FIN4, FIN5 and BEL2 although some had also sparse hair (Table 1) and mild short stature (-2SD in FIN3 and FIN4).…”

Section: Discussionmentioning

confidence: 96%

Novel PORCN mutations in focal dermal hypoplasia

Froyen¹,

Govaerts²,

Esch³

et al. 2009

Clinical Genetics

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Focal dermal hypoplasia (FDH), Goltz or Goltz-Gorlin syndrome, is an X-linked dominant multisystem disorder characterized primarily by involvement of the skin, skeletal system and eyes. We screened for mutations in the PORCN gene in eight patients of Belgian and Finnish origin with firm clinical suspicion of FDH. First, we performed quantitative PCR (qPCR) analysis to define the copy number at this locus. Next, we sequenced the coding regions and flanking intronic sequences of the PORCN gene. Three de novo mutations were identified in our patients with FDH: a 150-kb deletion removing six genes including PORCN, as defined by qPCR and X-array-CGH, and two heterozygous missense mutations; c.992T>G (p.L331R) in exon 11 and c.1094G>A (p.R365Q) in exon 13 of the gene. Both point mutations changed highly conserved amino acids and were not found in 300 control X chromosomes. The three patients in whom mutations were identified all present with characteristic dermal findings together with limb manifestations, which were not seen in our mutation-negative patients. The clinical characteristics of our patients with PORCN mutations were compared with the previously reported mutation-positive cases. In this report, we summarize the literature on PORCN mutations and associated phenotypes.

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Section: Discussionmentioning

confidence: 96%

Novel PORCN mutations in focal dermal hypoplasia

Froyen¹,

Govaerts²,

Esch³

et al. 2009

Clinical Genetics

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“…7 The histopathologic pattern of dilated capillaries shares some resemblance with angioma serpiginosum; indeed, a case reported as angioma serpiginosum due to deletion of PORCN 8,9 almost certainly represents Goltz syndrome as the clinical lesion also showed atrophy and hypopigmentation and esophageal papillomatosis was documented. 10 Goltz syndrome currently does not have well-defined criteria for the diagnosis, although the presence of a linear lesion of atrophic skin is seen in >95% of patients. 11 Limb anomalies are also common.…”

Section: Discussionmentioning

confidence: 99%

Revisiting histopathologic findings in Goltz syndrome

Antaya

Zubek

et al. 2016

J Cutan Pathol

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Goltz syndrome (focal dermal hypoplasia) is an X-linked dominant disorder that is classically associated with yellowish papules representing fat herniation (superficial adipocytes). We report a series of three cases, with clinicopathologic correlation of biopsies from Blaschkoid streaks. A range of histopathologic features, including some underreported findings (increased papillary dermal blood vessels, decreased thickness of the dermis, and adipocytes high in the dermis), are reproducible and can strongly point to the correct diagnosis of Goltz syndrome.

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“…It should be noted that, according to present knowledge, an X‐linked type of angioma serpiginosum being caused by PORCN mutations (OMIM 300652) does not exist. It reflects a misdiagnosis made in a family affected with focal dermal hypoplasia …”

Section: Capillary Naevimentioning

confidence: 99%

Capillary malformations: a classification using specific names for specific skin disorders

Happle

2015

Acad Dermatol Venereol

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The name capillary malformation has caused much confusion because it is presently used to designate numerous quite different disorders such as naevus flammeus, the salmon patch, the vascular naevus of the hereditary 'megalencephaly-capillary malformation syndrome' and the skin lesions of non-hereditary traits such as 'capillary malformation-arteriovenous malformation' and 'microcephaly-capillary malformation'. To avoid such bewilderment, the present review describes the distinguishing clinical and genetic criteria of 20 different capillary malformations, and a specific name is given to all of them. The group of capillary naevi includes naevus flammeus, port-wine naevus of the Proteus type, port-wine naevus of the CLOVES type, naevus roseus, rhodoid naevus, cutis marmorata telangiectatica congenita, congenital livedo reticularis, segmental angioma serpiginosum, naevus anaemicus, naevus vascularis mixtus and angiokeratoma circumscriptum. Capillary lesions that perhaps represent naevi are the mesotropic port-wine patch, Carter-Mirzaa macules, unilateral punctate telangiectasia and unilateral naevoid telangiectasia of the patchy type. Capillary malformations that do not represent naevi include X-linked angiokeratoma corporis diffusum (Fabry disease), autosomal dominant angiokeratoma corporis diffusum, hereditary haemorrhagic telangiectasia, hereditary angioma serpiginosusm and the salmon patch. In this way, we are able to discriminate between various non-hereditary capillary naevi such as naevus roseus and the hereditary rhodoid naevus and several hereditary traits that do not represent naevi such as angiokeratoma corporis diffusum and hereditary haemorrhagic telangiectasia; between four different types of port-wine stains, three of them being lateralized and one being mesotropic; between cutis marmorata telangiectatica congenita and congenital livedo reticularis; between telangiectatic naevi and the vasoconstrictive naevus anaemicus; and between two different types of angiokeratoma corporis diffusum. Finally, arguments are presented why the salmon patch ('stork bite', 'naevus simplex') cannot be categorized as a naevus.

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Angioma serpiginosum is not caused by PORCN mutations

Cited by 15 publications

References 7 publications

Novel PORCN mutations in focal dermal hypoplasia

Novel PORCN mutations in focal dermal hypoplasia

Revisiting histopathologic findings in Goltz syndrome

Capillary malformations: a classification using specific names for specific skin disorders

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