Phacomatosis spilosebacea: A new name for a distinctive binary genodermatosis.

Phacomatosis pigmentokeratotica (PPK) is defined by the association of papular nevus spilus arranged in a flag-like pattern and sebaceous nevus following Blaschko's lines. A systematic search of the worldwide literature retrieved 95 well-established PPK cases. An additional 30 cases were excluded for a number of reasons. Based on this study, we propose to rename PPK phacomatosis spilosebacea (PSS). Mosaic mutations of the HRAS gene are the only proven cause of PSS. The extracutaneous abnormalities of PSS result from various degrees of intermingling of Schimmelpenning syndrome and papular nevus spilus syndrome. PSS seems to be a condition at particularly high risk of developing basal cell carcinoma, urogenital malignancies, and vitamin D-resistant hypophosphatemic rickets. Extracutaneous abnormalities were detected in approximately 75% of PSS cases.

Phacomatosis spilorosea versus phacomatosis melanorosea: a critical reappraisal of the worldwide literature with updated classification of phacomatosis pigmentovascularis.

INTRODUCTION: Phacomatosis pigmentovascularis is a term encompassing a group of disorders characterized by the coexistence of a segmental pigmented nevus of melanocytic origin and segmental capillary nevus. Over the past decades, confusion over the names and definitions of phacomatosis spilorosea, phacomatosis melanorosea, and their defining nevi, as well as of unclassifiable phacomatosis pigmentovascularis cases, has led to several misplaced diagnoses in published cases. METHODS: A systematic and critical review of the worldwide literature on phacomatosis spilorosea and phacomatosis melanorosea was carried out. RESULTS: This study yielded 18 definite instances of phacomatosis spilorosea and 14 of phacomatosis melanorosea, with one and six previously unrecognized cases, respectively. CONCLUSIONS: Phacomatosis spilorosea predominantly involves the musculoskeletal system and can be complicated by neurological manifestations. Phacomatosis melanorosea is sometimes associated with ancillary cutaneous lesions, displays a relevant association with vascular malformations of the brain, and in general appears to be a less severe syndrome. Established phacomatosis pigmentovascularis variants now include phacomatosis cesioflammea, phacomatosis cesiomarmorata, phacomatosis spilorosea, phacomatosis melanorosea, phacomatosis cesioflammeomarmorata, and phacomatosis melanocesioflammea.

Nevus comedonicus syndrome: A systematic review of the literature.

Nevus comedonicus (NC) syndrome is a condition first identified in 1978. The cause of NC syndrome has been recently proven to be a gain-of-function, mosaic postzygotic mutation of the NEK9 gene. A systematic review of the literature retrieved 43 well-established cases of NC syndrome reported so far. Three morphological variants of NC in NC syndrome emerged: (a) the more common, predominantly comedonal type; (b) "Selhorst type"; and (c) "atrophoderma vermiculatum" type. NC syndrome is mainly associated with ocular, skeletal, and neural abnormalities, most typically ipsilateral congenital cataract and malformations of fingers and toes.

Papular nevus spilus syndrome: old and new aspects of a mosaic RASopathy.

The co-existence of papular nevus spilus (PNS) and ipsilateral extracutaneous abnormalities involving peripheral nerves of the skin or muscles was originally described as "speckled lentiginous nevus syndrome". To avoid confusion with macular nevus spilus, the condition was recently re-named "papular nevus spilus syndrome". In addition to 14 published cases, we identified six new cases via a search of the worldwide literature. New diagnostic criteria are suggested: (1) presence of a PNS; (2) presence of a neurological or skeletal abnormality which is usually ipsilateral to the nevus; and (3) absence of a nevus sebaceus. According to current knowledge, PNS syndrome is a rather rarely occurring, sporadic disorder that can be considered to be part of a spectrum of mosaic RASopathies, which includes isolated PNS, isolated nevus sebaceus, PNS syndrome, Schimmelpenning syndrome, and phacomatosis pigmentokeratotica.

Photodynamic therapy for chronic venous ulcers.

Some laboratory findings and a few case reports support the treatment of chronic venous ulcers with photodynamic therapy. We treated 19 patients with refractory chronic venous ulcers using photodynamic therapy. The ulcers healed in 15 cases (78.9%) after an average of 6.8 photodynamic therapy sessions (range 6.0-8.0). In the remaining 4 cases, the ulcers showed marked improvement after 10 photodynamic therapy sessions. Photodynamic therapy seems to represent a good alternative therapeutic choice for refractory chronic venous ulcers.

Drug Reaction with Eosinophilia and Systemic Symptoms (DRESS) Syndrome.

Drug rash with eosinophilia and systemic symptoms syndrome is a severe idiosyncratic drug reaction with a long latency period. It has been described using many terms; however, drug rash with eosinophilia and systemic symptoms syndrome appears to be the most appropriate. This syndrome causes a diverse array of clinical symptoms, anywhere from 2 to 8 weeks after initiating the offending drug. Standardized criteria for the diagnosis have been developed; however, their utility remains to be validated. Unfortunately, the management of drug rash with eosinophilia and systemic symptoms syndrome is not well supported by strong evidence-based data.

Multiple cutaneous and uterine leiomyomatosis syndrome: a review.

Multiple cutaneous and uterine leiomyomatosis is an autosomal dominant disease characterized by leiomyomas of the skin and uterus. A small proportion of patients affected by multiple cutaneous and uterine leiomyomatosis will develop renal cell carcinoma and this condition is known as hereditary leiomyomatosis and renal cell carcinoma. Diagnosis usually occurs during histological analysis of a cutaneous biopsy. Management should involve a multidisciplinary team along with periodical radiological studies to closely monitor tumor size in the uterus and kidneys. Gonadotropin-releasing hormone analogues are helpful in reducing the size of uterine fibroids.