The group of epidermal nevus syndromes

Happle, Rudolf

doi:10.1016/j.jaad.2010.01.016

Cited by 165 publications

(68 citation statements)

References 32 publications

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“…When we consider our cases in relation to PENS, we think that our cases fulfill the criteria of a new epidermal syndrome, so far being ‘in limbo’, as defined by Happle [9]. …”

Section: Discussionmentioning

confidence: 99%

PENS Syndrome: A New Neurocutaneous Phenotype

et al. 2012

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Background: The central nervous system originates ontogenetically from the ectoderm and therefore numerous neurocutaneous syndromes exist. Objective: We describe a novel neurocutaneous syndrome with characteristic epidermal papules and plaques associated with mild psychomotor retardation and epilepsy with a good prognosis. Methods: We investigated history, clinical features, laboratory parameters including karyotype, histopathological and immunohistological examination, electron microscopy, HPV infection, EEG and neurologic imaging in patients with an unusual symptom complex. Results: Six children are reported with characteristic keratotic papules and plaques of ‘gem-like’ appearance, randomly distributed on the trunk and the proximal part of the limbs. Four patients were unrelated and two were siblings. The cutaneous lesions appeared congenitally or developed soon after birth. The skin lesions were rounded or of an irregularly polycyclic shape, ranging from 0.5 to 1.5 cm in diameter. A few to eighteen lesions were present. The lesional surface was rough and of white or yellowish color. Histopathological examination showed acanthokeratosis, but immunostaining for keratins and melanocytes, electron microscopy and laboratory results were within normal range. During the natural course of the disease the lesions were stable and asymptomatic. All but one of our six patients developed neurologic signs and symptoms during the first year of life, in the form of epilepsy and psychomotor delay. Five children had low intellectual performance together with EEG abnormalities and some had MRI changes of the brain. One patient had marked language impairment. The central nervous system involvement had a peculiar benign and self-limiting course and total normalization occurred in one case. Limitations: We present only a small series of patients. Conclusion: Cutaneous lesions showing identical clinical and microscopical features, but without any extracutaneous abnormalities, have recently been described by Torrelo et al. [J Am Acad Dermatol 2011;64:888–892] under the designation ‘papular epidermal nevus with “skyline” basal cell layer (PENS)’. An association of such nevi with neurologic abnormalities had so far only been published in the ‘Atlas of Genodermatoses’ edited by Caputo and Tadini. We believe that this unique and otherwise undescribed symptom complex is a new neurocutaneous phenotype that may be called PENS syndrome. Whether this new syndrome can be categorized as a distinct phenotype within the group of epidermal nevus syndromes remains speculative and has to be clarified by further investigations.

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“…When we consider our cases in relation to PENS, we think that our cases fulfill the criteria of a new epidermal syndrome, so far being ‘in limbo’, as defined by Happle [9]. …”

Section: Discussionmentioning

confidence: 99%

PENS Syndrome: A New Neurocutaneous Phenotype

et al. 2012

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“…Surviving patients generally show normal intelligence or only mild difficulties. Ipsilateral (same side as skin lesions) internal organ malformations may be observed [46,47].…”

Section: Child Syndromementioning

confidence: 99%

“…Involvement of the axial skeleton can include the presence of ipsilateral hypoplastic mandible, missing clavicle/scapula/ ribs, vertebral abnormalities (hypoplasia, hemivertebrae, sagittal clefts), scoliosis and unilateral hypoplastic pelvis. Limb reduction defects are usually more severe in CHILD syndrome than in X-linked dominant chondrodysplasia punctata, while a progressive improvement of the skin lesions and the possible occurrence of cataracts are typical of the latter condition [30,31,47].…”

Section: Child Syndromementioning

confidence: 99%

Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis

et al. 2015

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Disorders of post-squalene cholesterol biosynthesis are inborn errors of metabolism characterised by multiple congenital abnormalities, including significant skeletal involvement. The most frequent and best-characterised example is the Smith-Lemli-Opitz syndrome. Nine other disorders are known, namely autosomal-recessive Antley-Bixler syndrome, Greenberg dysplasia, X-linked dominant chondrodysplasia punctata, X-linked recessive male emopamil-binding protein deficiency, CHILD syndrome, CK syndrome, sterol C4 methyloxidase-like deficiency, desmosterolosis and lathosterolosis. This study provides an overview of the radiologic features observed in these diseases. A common pattern of limb abnormalities is recognisable, including polydactyly, which is typically post-axial and rarely interdigital and can involve all four limbs, and syndactyly of the toes. Chondrodysplasia punctata is specifically associated with a subgroup of disorders of cholesterol biosynthesis (Greenberg dysplasia, CHILD syndrome, X-linked dominant chondrodysplasia punctata, male emopamil-binding protein deficiency). The possible occurrence of epiphyseal stippling in the Smith-Lemli-Opitz syndrome, initially reported, does not appear to be confirmed. Stippling is also associated with other congenital disorders such as chromosomal abnormalities, brachytelephalangic chondrodysplasia punctata (X-linked recessive chondrodysplasia punctata, disruptions of vitamin K metabolism, maternal autoimmune diseases), rhizomelic chondrodysplasia punctata (peroxisomal disorders) and lysosomal storage disorders. In the differential diagnosis of epiphyseal stippling, a moth-eaten appearance of bones, asymmetry, or presence of a common pattern of limb abnormalities indicate inborn errors of cholesterol biosynthesis. We highlight the specific differentiating radiologic features of disorders of post-squalene cholesterol biosynthesis.

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“…Klinisch zeichnet er sich als scharf begrenzte, bis- Ein ausgedehnter ("systematisierter"), den Blaschko-Linien folgender NS ist das kutane Leitsymptom des Schimmelpenning-Syndroms. Es zeichnet sich durch die Assoziation mit ophthalmologischen (Choristome, Kolobome), zentralnervö-sen (mentale Retardierung, Krampfleiden, Hemiparesen) und ossären Missbildungen aus, auch kardiovaskuläre Fehlbildungen sind beschrieben [11]. Die im Nä-vus vorhandenen HRAS-und KRAS-Mutationen sind auch in den betroffenen Organen nachweisbar [7].…”

Section: Naevus Sebaceusunclassified

Fehlbildungen und Nävi des behaarten Kopfes

Behle

Hamm

2014

Hautarzt

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Unusual congenital or early-onset skin lesions on the scalp often pose a diagnostic challenge particularly as the clinical evaluation may be hampered by dense hair growth. Thus, this paper provides a concise review on developmental abnormalities and nevi with exclusive or predominant scalp localization. Aplasia cutis congenita occurs as an isolated finding, in association with genetic syndromes, nevi and anomalies or as a consequence of intrauterine trauma and teratogens. A hairless area with a narrow surrounding rim of hypertrichosis (hair collar sign) may point to occult cranial dysraphism, especially if accompanied by further suggestive signs as port-wine stains, large hemangiomas, dimples, congenital dermoid cysts, and sinuses. Many diverse entities may hide behind cutis verticis gyrata with the primary essential form being rare and representing a diagnosis of exclusion. In contrast to former belief, benign adnexal tumors arise in a nevus sebaceus considerably more often than basal cell carcinomas and other malignant epithelial tumors. Provided that tumor development is not suspected, excision of a nevus sebaceus nevus is indicated primarily for aesthetic-psychosocial reasons. However, surgical treatment is considerably easier in small children. Nevus sebaceus may be a cutaneous marker for several complex syndromes whereas nevus psiloliparus presents almost always in connection with encephalocraniocutaneous lipomatosis. Congenital melanocytic nevi of the scalp tend toward clinical regression, so that surgical intervention in large lesions should be carefully considered. In contrast, the threshold for excision of blue nevi and other conspicuous melanocytic nevi on the scalp should be low, especially since they are difficult to monitor.

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The group of epidermal nevus syndromes

Cited by 165 publications

References 32 publications

PENS Syndrome: A New Neurocutaneous Phenotype

PENS Syndrome: A New Neurocutaneous Phenotype

Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis

Fehlbildungen und Nävi des behaarten Kopfes

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