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.

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.

Cutis tricolor.

Cutis tricolor is characterized by the coexistence of congenital hyperpigmented and hypopigmented patches in the context of normally pigmented skin. We report the case of a 13-year-old white adolescent girl with cutis tricolor. We analyze other reported cases of cutis tricolor as well as other cases characterized by coexistent hyperpigmented and hypopigmented patches. Cutis tricolor seems to be a rather unique cutaneous manifestation and occurs either in isolation or in association with internal manifestations. Labeling any other case characterized by hyperpigmented and hypopigmented patches as cutis tricolor, regardless of the distribution pattern, is inappropriate in our opinion.

Erythema multiforme and Stevens-Johnson syndrome/toxic epidermal necrolysis associated with lupus erythematosus.

BACKGROUND: The occurrence of erythema multiforme (EM)-like lesions in association with lupus erythematosus (LE) is often referred to as "Rowell syndrome" (RS). However, the existence of RS, or at least its nosographic independence from LE, is questioned. The association of Stevens-Johnson syndrome (SJS)/toxic epidermal necrolysis (TEN) with LE is also controversial. OBJECTIVE: We sought to define the features of EM and SJS/TEN in the setting of LE. METHODS: The worldwide literature on the topic was systematically collected and reviewed. RESULTS: A total of 132 citations were found, from which 95 cases of EM-like lesions and 47 of SJS/TEN associated with LE were retrieved. Our analysis identified a subgroup defined as "subacute cutaneous LE (CLE)/acute CLE with EM-like lesions" and highlighted that this and subacute CLE/acute CLE with TEN-like lesions are variants of already known CLE subpatterns. On the other hand, RS can be considered an independent chronic CLE subtype characterized by the distinctive co-occurrence of chronic CLE and EM-like lesions and frequent, albeit mild, systemic involvement. LIMITATIONS: The study was based on retrospective data and the number of reported cases identified was relatively small. CONCLUSION: RS might be included as a chronic CLE subtype within the spectrum of LE-specific skin disease.

Segmental acne versus mosaic conditions with acne lesions.

Acne rarely presents in segmental patterns, which are encountered only in cutaneous mosaicism. We report herein two cases of segmentally arranged acne and systematically review the literature on the topic. Beside already known mosaic conditions which may show primary lesions typical of acne, i.e. nevus comedonicus, Happle-Tinschert syndrome, acne superimposed on epidermal nevi and mosaic Apert syndrome, we introduce the possibility that acne itself may present in a mosaic form. As from the extremely small casuistics retrieved, segmental acne is not present at birth, follows Blaschko lines, is polymorphous in nature and occurs on locations typical of common acne.

"Alternately divided" epidermal nevus of the fingers.

A 2-year-old white girl with divided (or kissing) epidermal nevus of the third and fourth fingers of the left hand is described. The possible pathogenesis of this unique lesion is also discussed.

Allopurinol-induced palisaded neutrophilic and granulomatous dermatitis.

We describe a 64-year-old man with past chronic myeloid leukemia. Palisading neutrophilic granulomatous dermatitis of the hands was diagnosed and related to recent allopurinol intake. Allopurinol is known to rarely cause granulomatous reactions, but this appears to be the first case of palisading neutrophilic granulomatous dermatitis induction. Possible mechanisms include immune complex deposition, an immune response directed against the metabolites of allopurinol, or allopurinol hypersensitivity exclusively localized to the skin.

S100-negative indeterminate cell histiocytosis in an African American child responsive to narrowband ultraviolet B.

Indeterminate cell histiocytosis is a rare cutaneous disease characterized by the presence of dendritic cells that lack Birbeck granules and immunophenotypically shares features of both Langerhans cells and macrophages. We describe a case of a 4-year-old African American boy affected by a disseminated, exclusively mucocutaneous form of indeterminate cell histiocytosis. The eruption was successfully treated with narrowband ultraviolet B. The peculiar negativity of the Langerhans cell marker S100 is also discussed.

Tumor necrosis factor-α in vitiligo: direct correlation between tissue levels and clinical parameters.

BACKGROUND: Experimental evidences have shown that tumor necrosis factor (TNF)-α may play a role in the pathogenesis of nonsegmental vitiligo, and successful cases of vitiligo treated with TNF-α inhibitors have been recently reported. MATERIALS AND METHODS: Two cases of refractory generalized vitiligo, which showed high tissue levels of TNF-α, were commenced anti-TNF-α antibody etanercept 50 mg weekly. A retrospective study, considering chart review and immunohistochemical staining for TNF-α, was then carried out on eight additional patients affected by untreated vitiligo. RESULTS: Etanercept achieved improvement of vitiligo in two patients at 6-month follow-up. Five out of eight specimens showed a strong cytoplasmic staining for TNF-α. Considering all 10 cases, patients with a strong TNF-α staining were characterized by a higher vitiligo disease activity score than patients with a weak staining. DISCUSSION: These findings, albeit limited in significance by the low number of cases and the retrospective nature of the study, confirm a probable role of TNF-α in the pathogenesis of vitiligo. The intensity of TNF-α staining in vitiligo lesions may be worth to be further studied as a biomarker for potentially successful anti-TNF-α treatment of nonsegmental vitiligo in cases refractory to conventional treatment.

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.

Managing pediatric patients with psoriasis.

Childhood-onset psoriasis affects approximately one-third of the psoriatic population. Among many potential treatments of childhood psoriasis, biological agents are emerging as a valuable option in the management of this disease. In Europe, etanercept has recently been approved for children aged 8 years and over. Data from a well-designed clinical trial indicate that in children, etanercept effectively reduces psoriasis symptoms, with beneficial effects evident as early as 4 weeks after the initiation of treatment. Etanercept is well tolerated; adverse effects are typically mild to moderate in severity. Early data from other biological agents are promising.

Papuloerythroderma 2009: two new cases and systematic review of the worldwide literature 25 years after its identification by Ofuji et al.

BACKGROUND: Even after the description of papuloerythroderma of Ofuji (PEO) in 1984, little is known about this clinical entity. OBJECTIVE: To report on 2 new cases of PEO and review of the worldwide literature on this topic. METHODS: Article citations were searched on several biomedical search engines (PubMed, EMBASE, SCOPUS, Google Scholar). Papers were retrieved either online or in print. RESULTS: A grand total of 170 PEO cases were identified. Most patients were older than 55 years and of Asian or white descent, with an overall male/female ratio of 4.0. Itch and the deck-chair sign were observed in all patients. Peripheral eosinophilia, lymphocytopenia and increased serum IgE were common findings. Histopathology mostly showed aspecific inflammation, while 17 showed histological features of cutaneous T-cell lymphoma (CTCL). Atopy, malignancies, infections and drugs were rarely linked to PEO. CONCLUSION: PEO represents a rather monomorphous entity both clinically and, with the remarkable exception of CTCL, also histologically. Nonetheless, no causative factor could be identified in the vast majority of cases. An etiological classification and diagnostic criteria are proposed in the attempt to contribute framing this puzzling clinical entity.

Bilateral treatment for alopecia areata.

A 4-year-old, otherwise healthy white girl was referred for a 15-month history of alopecia areata. Anthralin 0.1% cream was prescribed for the left side of the scalp, while corticosteroids for the right side. After 4 months, only the right side of the scalp showed hair regrowth. Half-side strategy, that is, treating one side and managing the other--divided by the mid sagittal suture--as an internal control for no treatment, placebo or other treatment, has been commonly used in clinical studies for decades. In everyday practice, bilateral treatment is useful to evaluate the responsiveness to two topically delivered interventions and diminishes the time necessary to identify an effective one.

Naturally occurring regulatory T cells in mucous membrane pemphigoid lesions.

BACKGROUND: A growing body of evidence suggests the involvement of naturally occurring CD4+ CD25+ regulatory (nTreg) T cells in autoimmune diseases. OBJECTIVE: To evaluate the expression of some nTreg markers in mucous membrane pemphigoid (MMP) lesions. METHODS: Lesional biopsies from six patients with untreated MMP were stained immunohistochemically with anti-CD25, -FoxP3, -CD103, and -CCR5. RESULTS: All of the stained cells, both in MMP lesions and controls, were observed in the interstitial lamina propria or dermis. Positive cell counts of all the markers studied were low or very low in all sections, and significantly higher in MMP specimens than in healthy controls. CONCLUSIONS: The expression of CCR5 and CD103, which mediate recruitment into peripheral tissues, indicates that CD25+ FoxP3+ nTreg cells may be present in MMP lesions according to a specific homing. nTreg cells may contribute to directing the MMP immunoinflammation towards chronicity, and thus favor the cicatricial evolution of lesions.

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.

Immunopathogenesis of folliculitis decalvans: clues in early lesions.

Folliculitis decalvans (FD) is a rare variant of primary cicatricial alopecia, for which the etiopathogenesis remains unclear. Our purpose was to evaluate whether certain immunologic mechanisms might have a significant role in the pathogenesis of FD. Lesional scalp biopsy specimens from 7 patients with FD, 7 with lichen planopilaris, and 4 with alopecia areata were studied immunohistochemically by using monoclonal antibodies to CD1a, CD3, CD4, CD8, CD20, CD25, HLA-DR, interleukin (IL)-1beta, IL-4, IL-8, interferon gamma, tumor necrosis factor alpha, basic fibroblast growth factor (b-FGF), transforming growth factor (TGF)-beta, endothelial leukocyte adhesion molecule 1, intercellular adhesion molecule (ICAM)-1, and vascular cell adhesion molecule. We showed that early FD lesions are characterized by an infiltration of activated T-helper cells, featuring mixed TH1/TH2 polarization. IL-8 and ICAM-1 may contribute to the infiltration of neutrophils, whereas b-FGF and TGF-beta may represent important mediators of the fibrosis that characterizes late-phase FD.