Hypotrichosis associated with capillary malformation-arteriovenous malformation syndrome

Martín‐Santiago, A.; Knöpfel, Nicole; Pozo, Jesús del; Escalas, Juan; Bartolomé, Beatriz; Janer, V.; Pascual, M. Gutiérrez; Nieto, Consuelo; Hervás, Juan A.

doi:10.1111/bjd.13287

Cited by 4 publications

(5 citation statements)

References 22 publications

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“…Some of them have a blanched perilesional halo, which has been related to vascular steal (high flow with direct arteriovenous shunting) 10,12,13 . Hypotrichosis has been occasionally described as well 22 . The term ‘rhodoid nevus’ has been proposed but not widely accepted as an alternative name for these lesions, 23 and ‘rhodoid naevus syndrome’ for CM‐AVM syndrome 17 …”

Section: Discussionmentioning

confidence: 99%

Histopathological hallmarks of cutaneous lesions of capillary malformation–arteriovenous malformation syndrome

Valdivielso-Ramos

Torrelo

Martín‐Santiago

et al. 2020

Acad Dermatol Venereol

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Importance Capillary malformation-arteriovenous malformation (CM-AVM) syndrome is a recently described syndrome with distinctive cutaneous lesions. Very little is known about the histopathology of these lesions. Objective The purpose of the study was to evaluate the histopathological characteristics of the pink macules of the CM-AVM syndrome and to investigate if these pink macules could be classified as capillary malformations or arteriovenous malformations based on their histopathological features. Design-settings-participants We conducted a retrospective multicenter study involving eight hospitals in Spain. Fifteen biopsies from pink macules of the CM-AVM syndrome were analysed and compared with five biopsies of diverse capillary malformations and three stage I arteriovenous malformations. Results Pink macules' biopsies of the CM-AVM syndrome showed similar features including a high vascular density encompassing capillaries and numerous thick-walled arterioles mainly located in the superficial dermis, a predominance of elongated over round vessels, scarce or absent erythrocytes within the lumina and discrete perivascular inflammation. CMs were characterized by an increased number of capillary-type vessels mostly rounded and located in the upper dermis. AVMs were composed by highly increased numbers of vessels with a branching pattern involving the full thickness of the dermis, without erythrocytes within the lumina. Wilms tumour 1 protein was positive in the endothelial cells both in pink macules of the CM-AVM and in arteriovenous malformations. Conclusions and relevance Pink macules of the CM-AVM syndrome seem to be different from capillary malformations. Our results suggest that histologically and immunohistochemically they are closer to incipient arteriovenous malformations than to capillary malformations. A deepened knowledge about the nature of these skin lesions will contribute to the better understanding of capillary malformation-arteriovenous malformation syndrome, and will open the possibility of new and more specific treatments in the future.

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Section: Discussionmentioning

confidence: 99%

Histopathological hallmarks of cutaneous lesions of capillary malformation–arteriovenous malformation syndrome

Valdivielso-Ramos

Torrelo

Martín‐Santiago

et al. 2020

Acad Dermatol Venereol

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“…The published prevalence rate of CM‐AVM is 0.85–1 per 100 000 population, 2,8 but in our series, we estimated a prevalence of 0.13 cases per 100 000 (64 patients from a population of 46 million). This lower figure is probably an underestimate because patients with mild symtoms may not consult a physician 2,14 …”

Section: Discussionmentioning

confidence: 57%

“…CM-AVM is characterized by multiple familial pinkish macules (PMs) 7 that can exhibit a brownish hue, by a perilesional whitish halo that occurs in half of the lesions, 3 and by hypotrichosis. 8 These PMs are considered to be cutaneous micro-AVMs. 4,9,10 Onethird of patients have a fast-flow vascular malformation (FFVM) in the skin, muscle, bone, brain or spinal cord.…”

Section: Introductionmentioning

confidence: 99%

Capillary malformation−arteriovenous malformation syndrome: a multicentre study

et al. 2020

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Summary Background Capillary malformation–arteriovenous malformation (CM‐AVM) syndrome is a rare syndrome with characteristic skin lesions that are associated with fast‐flow vascular malformations (FFVMs) in one‐third of patients. Few case series have been described, and none in Spain. Aim To identify the prevalence of dermatological parameters, FFVMs and associated features in a large series of patients with CM‐AVM. Methods We conducted an observational study of patients with CM‐AVM syndrome diagnosed in 15 Spanish hospitals over 3 years. The main clinical, radiological, genetic findings and associated diseases were analysed. Results In total, 64 patients were assessed. In 26.5% of cases, the diagnosis was incidental. In 75% of patients, there was one significantly larger macule, which we termed the ‘herald patch’. FFVMs were detected in 34% of the patients, with 30% located on the skin, 7.8% in the brain and in 1.5% in the spine. There was a positive family history in 65% of the 64 patients. Genetic analysis was performed for RASA1 mutations in 57 patients, of whom 42 (73%) had a positive result. All 4 patients tested for EPHB4 mutations had a positive result. No tumour lesions were detected in the series, except for five infantile haemangiomas. Conclusions Our data on clinical lesions, associated FFVM, family history and genetics are similar to those previously published in the literature. An extensive data analysis failed to demonstrate any statistically significant association between the presence of an FFVM and any clinical, familial or genetic parameter that could predict its onset, although a link between the presence of a herald patch on the midline face and the presence of a brain FFVM was observed. We did not detect any genotype–phenotype correlation.

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“…Martin-Santiago et al (8), who found lower hair density on CMs than on the adjacent skin, recently reported dermoscopic findings in CM-AVM syndrome. We were unable to confirm this finding in our patients, who all had low hair density, and the dermoscopic features we found in CMs were previously undescribed.…”

Section: Discussionmentioning

confidence: 97%

“…They may be surrounded by a typical vasoconstriction halo and are often the first and only sign in children . Dermoscopy is a simple, noninvasive clinical and diagnostic tool for enhanced evaluation of a wide variety of cutaneous tumoral or nontumoral vascular disorders, but dermoscopic features of CMs in this syndrome have rarely been studied . Herein we report dermoscopic characteristics of CMs in four individuals with CM‐AVM syndrome with a typical combination of vascular and pigmentary patterns.…”

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confidence: 95%

A Typical Vascular and Pigmentary Dermoscopic Pattern of Capillary Malformations in Capillary Malformation–Arteriovenous Malformation Syndrome: Report of Four Cases

Gandon

Bonniaud

Collet

et al. 2016

Pediatric Dermatology

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We report dermoscopic characteristics of cutaneous capillary malformations in four patients with capillary malformation-arteriovenous malformation (CM-AVM) syndrome. We observed a mixed vascular and pigmentary pattern with branched linear vessels and an underlying homogeneous brown background. Disappearance of the vascular pattern on pressure revealed an underlying faint pigmentary reticular pattern. Our results suggest that this typical biphasic pattern on dermoscopy may be useful for the diagnosis of CM-AVM syndrome.

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Hypotrichosis associated with capillary malformation-arteriovenous malformation syndrome

Abstract: Red punctate spots with pale halos or small telangiectasias are frequent findings in CM-AVM syndrome. Hypotrichosis on the CMs suggests that RASA1 gene mutations could be involved in the hair follicle proliferation and cell cycle.

Cited by 4 publications

References 22 publications

Histopathological hallmarks of cutaneous lesions of capillary malformation–arteriovenous malformation syndrome

Histopathological hallmarks of cutaneous lesions of capillary malformation–arteriovenous malformation syndrome

Capillary malformation−arteriovenous malformation syndrome: a multicentre study

A Typical Vascular and Pigmentary Dermoscopic Pattern of Capillary Malformations in Capillary Malformation–Arteriovenous Malformation Syndrome: Report of Four Cases

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