Julie V Schaffer

..This case draws attention to the pigmented neurofibroma as a distinct clinicopathologic entity resulting from proliferation of melanocytes and neurosustentacular cells in the setting of neurofibromatosis-1...

..Recent insights into pathogenesis of GVHD, lessons from GVHD arising in settings outside HSCT, and therapeutic advances also are highlighted...

..We review the clinical morphologies, sites of involvement, histopathologic findings (presence or absence of epidermolytic hyperkeratosis), and syndromal associations of non-organoid EN with underlying mutations in different genes...

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..Although the skin is the ectodermal structure most often affected by these autosomal dominant genodermatoses, abnormalities of neural tissues are frequently observed...

..CMN require lifelong follow-up. Periodic total body skin examinations are necessary for all patients with large CMN, even when complete resection (often impossible) has been attempted...

..These observations broaden the phenotypic and genotypic spectrum of LAH, further illustrating the consequences of DSG4 dysfunction on epidermal and hair shaft integrity...

..The clinical and histopathologic features, natural history, and treatment options for tufted angiomas are reviewed; their relationship to kaposiform hemangioendotheliomas is discussed...

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..The clinical findings and their widespread but segmental distribution were consistent with a diagnosis of mosaic neurofibromatosis type 1...

..Although ultraviolet (UV) radiation can potentially exacerbate PRP, our patient has improved with broad-band UVB phototherapy...

..Clinical examples are used to illustrate genetic concepts such as functional X-chromosome mosaicism, type 1 and 2 segmental manifestations of autosomal dominant skin diseases, paradominant inheritance, and twin spotting...

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..These findings were consistent with a noninvoluting congenital hemangioma, a rare vascular tumor that is fully formed at birth that subsequently grows proportionately with the patient and does not regress...

..It is therefore important for pediatricians to be aware of the natural history and clinical spectrum of melanocytic nevi in children as well as potentially worrisome features of pigmented lesions...

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..This report draws attention to juvenile amyopathic dermatomyositis, which is an uncommon subtype of dermatomyositis with an excellent prognosis...

..Most cases of XLI are caused by deletions of the STS gene, and contiguous gene syndromes may occur when the deletions extend to neighboring genes on the distal short arm of the X chromosome...

..Both disease subsets are characterized by the late age of onset, nail dystrophy, and predominantly pretibial pruritic lichenoid skin lesion; they are associated with glycine substitution mutations in COL7A1...

..We draw attention to the clinical features that typify EDS-VIII, including extensive pretibial bruising, a marfanoid body habitus, and characteristic facies, as well as childhood onset of progressive periodontal disease...

..We report symmetric truncal ACC in a neonate born of a sextuplet pregnancy that had been reduced to twins. This case highlights truncal ACC as a consequence of modern reproductive medicine...

..Mutations in genes encoding transglutaminase 1 (TGM1), the ABCA12 transporter (ABCA12), ichthyin, lipoxygenase 3 (ALOXE3), and 12(R)-lipoxygenase (ALOX12B) have been shown to underlie both NBCIE and LI...

..Blau syndrome, a rare autosomal dominant genodermatosis caused by mutations in the NOD2 (nucleotide-binding oligomerization domain 2) gene, has been considered as the familial form of early-onset sarcoidosis...

..This case series serves to expand the spectrum of sclerodermoid GVHD, with LS as the most superficial and EF as its deepest manifestation...

..This enables early initiation of ophthalmologic care, which can help to prevent visual sequelae...

..The disorder typically manifests during infancy or early childhood with extreme photosensitivity, skin fragility in sun-exposed areas, hypertrichosis, erythrodontia, and pink urine...

..This reports highlights the evolution of clinical findings over time in this X-linked dominant form of chondrodysplasia punctata...

..Past medical history included allergic rhinitis and asthma. Similar hand findings were not present in any other members of his family...

..BHDS should be considered, along with tuberous sclerosis and multiple endocrine neoplasia type 1, in the differential diagnosis of multiple facial angiofibromas, particularly when onset is in adulthood...

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..Treatment options include excision, sclerotherapy, and laser therapy (ablative or pulsed dye)...

..Although oral manifestations are a common feature of PC, to our knowledge, this represents the first report of median rhomboid glossitis in association with PC...