Incontinentia pigmenti in a male infant and a proposed diagnostic algorithm.

It is extremely rare for males with incontinentia pigmenti to survive. We summarize a diagnostic evaluation protocol for such individuals to provide an explanation for male survival.

Rosacea with persistent facial erythema and high Demodex density effectively treated with topical ivermectin alone or combined with oral carvedilol.

Topical ivermectin is effective in treating papulopustular rosacea, but its effect on persistent facial erythema of rosacea with high Demodex densities has not been well documented. We retrospectively reviewed 39 rosacea patients with persistent facial erythema and high Demodex densities. Clinician's erythema assessment (CEA) and Demodex density were evaluated before and after topical ivermectin alone or combined with oral carvedilol. Three patients (all with papulopustular rosacea, in ivermectin group) dropped out due to early ivermectin-induced local flare of rosacea. In the remaining patients (ivermectin group n = 14; ivermectin-carvedilol group n = 22), the CEA grade and Demodex density were significantly reduced, both P < .01. There was no statistically significant difference between the two groups in CEA before and after treatment (P = .07 and P = .23, respectively), and in Demodex density (P = .82 and .10, respectively). Both regimens markedly improved the persistent facial erythema with response being excellent in 26 of 36 patients (72%), good in 2, fair in 4 and none in 4. There was a correlation between the reduction of CEA and Demodex density after treatment (rho = 0.50, P = .002). The results showed that topical ivermectin was effective in reducing persistent facial erythema of rosacea with Demodex overgrowth.

Plectin Missense Mutation p.Leu319Pro in the Pathogenesis of Autosomal Recessive Epidermolysis Bullosa Simplex.

is missing (Short communication).

Hydroa Vacciniforme and Hydroa Vacciniforme-Like Lymphoproliferative Disorder: A Spectrum of Disease Phenotypes Associated with Ultraviolet Irradiation and Chronic Epstein-Barr Virus Infection.

Hydroa vacciniforme (HV) is a rare form of photosensitivity disorder in children and is frequently associated with Epstein-Barr virus (EBV) infection, whereas HV-like lymphoproliferative disorders (HVLPD) describe a spectrum of EBV-associated T-cell or natural killer (NK)-cell lymphoproliferations with HV-like cutaneous manifestations, including EBV-positive HV, atypical HV, and HV-like lymphoma. Classic HV occurs in childhood with papulovesicules on sun-exposed areas, which is usually induced by sunlight and ultraviolet irradiation, and mostly resolves by early adult life. Unlike classic HV, atypical or severe HV manifests itself as recurrent papulovesicular eruptions in sun-exposed and sun-protected areas associated occasionally with facial edema, fever, lymphadenopathy, oculomucosal lesions, gastrointestinal involvement, and hepatosplenomegaly. Notably, atypical or severe HV may progress to EBV-associated systemic T-cell or natural killer (NK)-cell lymphoma after a chronic course. Although rare in the United States and Europe, atypical or severe HV and HV-like lymphoma are predominantly reported in children from Asia and Latin America with high EBV DNA levels, low numbers of NK cells, and T cell clones in the blood. In comparison with the conservative treatment used for patients with classic HV, systemic therapy such as immunomodulatory agents is recommended as the first-line therapy for patients with atypical or severe HV. This review aims to provide an integrated overview of current evidence and knowledge of HV and HVLPD to elucidate the pathophysiology, practical issues, environmental factors, and the impact of EBV infection.

Recalcitrant extragenital giant condyloma acuminatum: A need for combination therapy.

Giant condyloma acuminatum (GCA), also known as Buschke -Löwenstein tumor, is a huge, rapidly growing variant of condyloma found in the anogenital region. Extragenital GCA is rare and, in most cases, affecting the intertriginous area and treated by excision. We described a case of refractory extragenital GCA involving the large part of the left axilla area successfully treated with immunotherapy and podophyllotoxin. Considering the large size and the location, the lesions were not treated by wide excision because it might result in scar contracture with limitation of shoulder movement or axillary web syndrome. Our case illustrates that combination therapy of podophyllotoxin, imiquimod plus weekly cryotherapy may be an effective and less invasive option for treating GCA of the axilla with good cosmetic and functional outcomes.

Dissecting folliculitis (dissecting cellulitis) of the scalp: a 66-patient case series and proposal of classification.

BACKGROUND AND OBJECTIVES: Dissecting folliculitis (DF) or dissecting cellulitis of the scalp is regarded as a rare disease with disfiguring scarring alopecia. This study aimed to analyze the features of DF and to propose a classification to define its severity. PATIENTS AND METHODS: A hospital-based retrospective study was conducted. Patients with a histopathological diagnosis or clinical features leading to diagnosis of DF were included and classified into three stages. RESULTS: Among the 66 patients recruited (63 men / 3 women, mean age 24.9 years), multiple interconnected alopecic nodules involving the vertex scalp were the main feature. Histopathology showed an extensive inflamed granulation abscess forming a dissection plane in the lower dermis/subcutis in the acute stage. Lymphocytic infiltration was predominant in seven of 21 histology specimens. Overweight and obesity were noted in 29 of 45 patients examined. No association with smoking was found. There was comorbidity with acne conglobata in 15 of 66 patients, two of whom had acne inversa. Longer disease duration and greater number of nodules were associated with higher severity of DF (p < 0.05). A complete remission rate of 25 % was achieved by any treatment, and a rate of 37.5 % was achieved with oral isotretinoin alone. CONCLUSIONS: DF is not uncommon in Taiwan. An association with obesity needs to be clarified.

Systematised naevus sebaceus resulting from post-zygotic mutation in HRAS.

Naevus sebaceus has recently been shown to result from post-zygotic mutations in HRAS, KRAS or occasionally NRAS. We present details of a neonate with extensive naevus sebaceus in whom we identified a pathogenic mutation in HRAS (c.37G > C; p.Gly13Arg), but only in lesional skin DNA, consistent with a mosaic RASopathy. This case highlights the clinicopathological and molecular findings of this naevoid disorder as well as the key issues in the clinical assessment and management of such patients.

Hydroa vacciniforme and hydroa vacciniforme-like T-cell lymphoma: an uncommon event for transformation.

BACKGROUND: Hydroa vacciniforme (HV) is associated with Epstein-Barr virus (EBV) infection and a risk of transformation to lymphoma. METHODS: We retrospectively analyzed six HV cases for EBV association and transformation to HV-like T-cell lymphoma. Clinicopathologic features were reviewed and cases were assessed for EBV-encoded RNA (EBER) by in situ hybridization, double staining with immunohistochemistry and EBER and for T-cell clonality. RESULTS: The male-to-female ratio was 5:1, with a median age at diagnosis of 18.5 years. All patients initially had recurrent vesicles, necrotic ulcers or scars on sun-exposed areas. Symptoms were present before diagnosis between 2 weeks to 10 years. The mean follow-up time was 106.3 months. Four patients (67%) were EBV-positive. All four EBV-positive and one EBV-negative patients had relapsing clinical course. Double staining proved EBV infection in T-cells. Moreover, one EBV-positive patient developed HV-like T-cell lymphoma with hemophagocytosis after 209 months of recurrent papulovesicular eruptions and eventually died. T-cell clonality was successfully performed in four HV patients and all showed polyclonal results; the transformed HV-like T-cell lymphoma was monoclonal. CONCLUSIONS: In EBV endemic areas, HV is frequently (67%) associated with EBV infection, but transformation to HV-like T-cell lymphoma seems to be uncommon (17%) and bear a dismal outcome.

Improved molecular diagnosis of the common recurrent intragenic deletion mutation in IKBKG in a Filipino family with incontinentia pigmenti.

Incontinentia pigmenti is a rare, multisystem X-linked dominant genetic disorder caused by mutations in IKBKG, the encoding inhibitor of kappa light polypeptide gene enhancer in B-cells. Almost 80% of all cases result from a recurrent intragenic deletion mutation that removes exon 4-10. At present, this mutation can be detected by a multi-primer polymerase chain reaction (PCR) technique although current protocols may preferentially amplify the wild-type allele and miss the deletion. Here, we report a female infant with incontinentia pigmenti that also affected her mother and sister, and two spontaneously aborted male siblings. We developed a modified PCR amplification method that provides more robust detection of the exon 4-10 deletion mutation, which was demonstrated in all affected females in this pedigree.

Paper-based ELISA for the detection of autoimmune antibodies in body fluid-the case of bullous pemphigoid.

Bullous pemphigoid (BP), a common autoimmune blistering disease, is increasing in incidence and conveys a high mortality. Detection of autoantibodies targeting the noncollagenous 16A (NC16A) domain of type XVII collagen using enzyme-linked immunosorbent assay (ELISA) has demonstrated high sensitivity and specificity for diagnosing BP. We have developed a rapid, low-cost, and widely applicable ELISA-based system to detect the NC16A autoimmune antibody and then diagnose and monitor BP disease activity using a piece of filter paper, a wax-printer, and NC16A antigens. Both sera and/or blister fluids from 14 untreated BP patients were analyzed. The control group included healthy volunteers and patients with other blistering disorders such as pemphigus vulgaris. In our established paper-based ELISA (P-ELISA) system, only 2 µL of serum or blister fluid and 70 min were required to detect anti-NC16A autoimmune antibodies. The relative color intensity was significantly higher in the BP group than in the control groups when using either serum (P < 0.05) or blister fluid (P < 0.001) specimens from BP patients. The results of P- ELISA were moderately correlated with the titer of the commercial ELISA kit (MBL, Japan) (rho = 0.5680, P = 0.0011). This newly developed system allows for rapid and convenient diagnosis and/or monitoring of BP disease activity.

Clinicopathologic study of solar dermatitis, a pinpoint papular variant of polymorphous light eruption in Taiwan, and review of the literature.

BACKGROUND/PURPOSE: A mild, micropapular eruption previously coined as "solar dermatitis" on the extensor of the forearm is a common form of photodermatitis in Taiwan. This study aimed to investigate the clinicopathologic findings of "solar dermatitis", the micropapular type of photodermatitis. METHODS: We characterized the features of this photodermatitis by retrospectively reviewing and analyzing all such cases in a medical center in Southern Taiwan diagnosed during October 1988 to November 2010. RESULTS: A total of 34 Taiwanese patients, all with Fitzpatrick skin type III-IV, were included (M:F = 1:1; mean age = 33.5 years; range = 9-62 years). Patients typically presented numerous, monomorphous, pinhead-sized micropapules on the extensor of the forearm after a recent, more intense sun exposure. The rash was often mildly pruritic and recurred in the summer, but usually resolved in a few days after sun protection and topical corticosteroid treatment. Reduced minimal erythema dose to UVB was noted in 2 of the 5 patients tested. Histopathologic examination (n = 10) revealed a mild spongiotic dermatitis. CONCLUSION: The clinicopathologic findings of the "solar dermatitis" closely resembled those of the pinpoint papular variant of polymorphous light eruption (PP-PMLE) affecting African Americans and Asians in Singapore. PP-PMLE, micropapular light eruption in Japanese, summertime actinic lichenoid eruption in Indians and the present photodermatitis might represent a common, micropapular variant of PMLE affecting darker skin populations.