Patchy dermal hypoplasia as a characteristic feature of Proteus syndrome

Happle, R.

doi:10.1001/archderm.133.1.77

Cited by 13 publications

(9 citation statements)

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“…15 Among the 'minor' criteria, a variety of vascular anomalies [vascular tumours; portwine stains (PWS); varicose veins] have been observed in PS, but their true prevalence is unknown. Based on our own experience, and in accordance with recent reports, [16][17][18][19] it appears that vascular anomalies are more common in PS than previously acknowledged. In order to assess this issue systematically, we collected data on the type and prevalence of vascular anomalies in our own series of PS patients and in 100 PS cases reported in the literature.…”

Section: Introductionsupporting

confidence: 90%

Vascular anomalies in Proteus syndrome

et al. 2004

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Proteus syndrome (PS) is a complex hamartomatous disorder defined by local overgrowth (macrodactyly or hemihypertrophy), subcutaneous tumours and various bone, cutaneous and/or vascular anomalies (VA). VA are manifold in PS, but their prevalence is unknown so far. In order to further characterize PS, we studied the prevalence of VA in 22 PS patients presenting to our outpatient clinic and reviewed 100 PS patients previously reported between 1983 and 2001. The diagnosis of vascular abnormalities was made on clinical grounds and supported with imaging studies and/or histology in 12 and seven patients out of 22, respectively. Thirty-five VA were identified in 22/22 (100%) of our patients, and more than one type of VA were present in 10 of them. Vascular tumours, portwine stains (PWS), and venous anomalies (varicosities, prominent veins) were equally common. A total of 118 VA were previously reported in 70/100 (70%) PS patients; vascular hamartomas were more prevalent (56/118 = 47.5%), whilst PWS (21.2%) and venous anomalies (22.9%) were slightly less common than in our series, but there is the possibility of under-reporting. Unlike Klippel-Trenaunay syndrome, where VA are mostly confined to the hypertrophic limb, major arteriovenous anomalies are rare, and - similar to the other hamartomas and naevi observed in PS (pigmentary naevi, epidermal naevi, subcutaneous tumours, exostoses) - VA appear to be distributed at random sites on the body. We conclude that VA are among the most common findings in PS. Their varying type and distribution lend further support to the concept of somatic mosaicism.

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Section: Introductionsupporting

confidence: 90%

Vascular anomalies in Proteus syndrome

et al. 2004

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“…The hypoplastic skin lesions of this boy were indistinguishable from those described in patients with classical Proteus syndrome [Happle et al, 1997]. Paradoxically, however, lesions of overgrowth were rather mild.…”

Section: Discussionmentioning

confidence: 38%

“…The simultaneous occurrence of Pleioproteus and Elattoproteus components has tentatively been explained as a twin spot phenomenon [Happle et al, 1997]. As a general rule, either component of twin spots may likewise occur as a single spot, and for this reason it seems justified to anticipate the existence of a simple Elattoproteus syndrome.…”

Section: Discussionmentioning

confidence: 99%

“…Disproportionate macrodactyly or overgrowth of an entire limb is often observed [Temtamy and Rogers, 1976;Cohen, 1988]. Conversely, it has become apparent in past years that patients affected with Proteus syndrome may also have mosaic areas of deficient growth, such as circumscribed lipohypoplasia, patchy dermal hypoplasia, or hypoplasia of a limb [Clark et al, 1987;Happle, 1995;Happle et al, 1997].…”

Section: Introductionmentioning

confidence: 99%

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Elattoproteus syndrome: Delineation of an inverse form of Proteus syndrome

Happle

1999

Am. J. Med. Genet.

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A 7-year-old boy had partial lipohypoplasia and patchy dermal hypoplasia involving large areas of his body. These areas of deficient growth were similar to those described in many cases of Proteus syndrome. Paradoxically, however, he had only few and rather mild lesions of disproportionate overgrowth. This unusual case is taken as a clue to postulate the Elattoproteus syndrome, an inverse form of Proteus syndrome. The paradoxical coexistence of hyperplastic and hypoplastic lesions may reflect a twin spot phenomenon. The patient would carry at the Proteus locus one allele giving rise to overgrowth of tissues (Pleioproteus allele--from Greek pleion, meaning plus), whereas the other allele would cause deficient growth of tissues (Elattoproteus allele--from Greek elatton, meaning minus). At an early stage of embryogenesis, somatic recombination would give rise to two different populations of cells homozygous for either allele. From a heuristic point of view, one may postulate the existence of the Elattoproteus syndrome, a purely inverse form of Proteus syndrome that would develop in the absence of the Pleioproteus allele.

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“…These so-called moccasin lesions are caused by a hyperplasia of the dermis and the deep fibro-adipose tissue in terms of a connective tissue nevus. In a recent paper, Happle et al [1997] pointed out that there is also patchy dermal hypoplasia in a number of cases that may be explained by the concept of twin spotting. The other main dermatological anomaly is a linear verrucous epidermal nevus of a soft, flat, velvety type present in half to two thirds of cases.…”

Section: Proteus Syndromementioning

confidence: 99%

Cutaneous mosaicism of lethal mutations

Hamm

1999

Am. J. Med. Genet.

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The concept of autosomal lethal genes surviving only in a mosaic state was proposed by Happle to explain the genetic basis of several syndromes characterized by (almost always) sporadic occurrence, distribution of lesions in a scattered or asymmetrical pattern, variable extent of involvement, lack of diffuse involvement of entire organs, and equal sex ratio. The mosaic may either arise from a gametic half-chromatid mutation or from an early postzygotic mutation. The purpose of this article is to review current knowledge of the genetics and cutaneous manifestations of some of the birth defects to which the lethal gene concept is thought to apply: the Schimmelpenning (Feuerstein-Mims) syndrome, Proteus syndrome, encephalocraniocutaneous lipomatosis, Sturge-Weber and Klippel-Trenaunay syndrome, cutis marmorata teleangiectatica congenita (van Lohuizen syndrome), and neurocutaneous melanosis.

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Patchy dermal hypoplasia as a characteristic feature of Proteus syndrome

Cited by 13 publications

References 0 publications

Vascular anomalies in Proteus syndrome

Vascular anomalies in Proteus syndrome

Elattoproteus syndrome: Delineation of an inverse form of Proteus syndrome

Cutaneous mosaicism of lethal mutations

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