Distribution and clinical features of lymphomas involving skin in Taiwan.

A wide variety of primary and secondary lymphoma types involves the skin. However, reports with comparisons between both groups are limited in Taiwan. We retrospectively enrolled all cutaneous lymphomas and evaluated their clinicopathologic features. There were 221 cases of lymphoma: 182 (82.3%) primary and 39 (17.7%) secondary. Mycosis fungoides was the most common primary T-cell lymphoma, 92 (41.7%) cases, followed by CD30-positive T-cell lymphoproliferative disorders including lymphomatoid papulosis (n = 33, 14.9%) and cutaneous anaplastic large cell lymphoma (n = 12, 5.4%). The most frequent primary B-cell lymphomas were marginal zone lymphoma (n = 8, 3.6%) and diffuse large B-cell lymphoma (DLBCL), leg type (n = 8, 3.6%). DLBCL including variants was the most common secondary lymphoma involving skin. Most primary lymphomas presented at low-stage (T-cell, 86%; B-cell, 75%), whereas the majority of secondary lymphomas presented at high-stage (T-cell, 94%; B-cell, 100%). Patients with secondary lymphomas had an older mean age, more frequent B symptoms, lower serum albumin and hemoglobin, and a higher frequency of atypical lymphocytes in blood than those with primary lymphomas. In primary lymphomas, older age, lymphoma types, decreased lymphocyte counts and atypical lymphocytes in blood were poorer prognostic factors. In secondary lymphoma patients, lymphoma types, high serum lactate dehydrogenase and low hemoglobin levels predicted poorer survival. We found that the distribution of primary cutaneous lymphomas in Taiwan mirrors that of other Asian countries but shows some differences as compared with Western countries. Primary cutaneous lymphomas have a better prognosis than secondary lymphomas. Histologic classification of lymphomas highly correlated with disease presentation and prognosis.

A possible role for second-hit postzygotic GJB2 mutation in porokeratotic eccrine ostial and dermal duct nevus.

Porokeratotic eccrine ostial and dermal duct nevus (PEODDN) is a rare type of epidermal nevus involving the eccrine acrosyringia. It typically presents as asymptomatic linear keratotic papules and plaques along the lines of Blaschko and predominantly affects the extremities. This disease has recently been linked to somatic mutations within the GJB2 locus. Only four GJB2 mutations have been previously documented for PEODDN, and the underlying genetic basis remains inconclusive. Herein, we report an 18-year-old female with a hyperkeratotic plaque on the dorsa of the proximal interphalangeal joint of her right ring finger, as well as multiple small hyperkeratotic papules linearly distributed on the lateral sides of her fingers occurring since birth. Histopathological results revealed prominent parakeratotic cornoid lamella-like tiers at the opening of the eccrine secretory ducts. Whole-exome sequencing of the affected skin tissue revealed a heterozygous germline mutation and a postzygotic somatic mutation in GJB2. In summary, this study presents a case of PEODDN with compound heterozygous mutations in GJB2, which broadens the genetic spectrum of this disease entity and implies a possible role for second-hit mutations in the pathogenesis of PEODDN.

Mutational analysis of epidermolysis bullosa in Taiwan by whole-exome sequencing complemented by RNA sequencing: a series of 77 patients.

BACKGROUND: Epidermolysis bullosa (EB) is a heterogeneous group of hereditary skin diseases characterized by skin fragility. Primary data on Taiwanese population remain scarce. METHODS: We gathered clinical information from EB patients at National Cheng Kung University Hospital from January, 2012, to June, 2021. Diagnostic tests including transmission electron microscopy, immunofluorescence studies, and whole-exome sequencing (WES) were performed. The pathogenicity of novel splice-site mutations was determined through reverse transcriptase-PCR of skin mRNA followed by Sanger and/or RNA sequencing. RESULTS: Seventy-seven EB patients from 45 families were included: 19 EB simplex, six junctional EB, and 52 dystrophic EB. Pathogenic variants were identified in 37 of 38 families (97.4%), in which WES was used as a first-line tool for mutational analysis; RNA sequencing determined pathogenic variants in the remaining one family. A total of 60 mutations in EB-related genes were identified, including 22 novel mutations. The mutations involved KRT5, KRT14, PLEC, COL17A1, LAMB3, LAMA3, ITGB4, and COL7A1. Over one-quarter of DEB patients had EB pruriginosa. CONCLUSIONS: The distinct clinical presentation and molecular pathology of EB in Taiwan expand our understanding of this disorder. WES was an effective first-line diagnostic tool for identifying EB-associated variants. RNA sequencing complemented WES when multiple potentially pathogenic splice-site mutations were found.

Hydroxocobalamin: An Effective Treatment for Flushing and Persistent Erythema in Rosacea.

Background: Expression of inducible nitric oxide synthase (NOS) is higher in rosacea skin samples than in normal skin controls. Hydroxocobalamin is a potent inhibitor of all isoforms of NOS, capable of reducing the vasodilatations induced by nitric oxide. Objective: We aimed to evaluate the role of hydroxocobalamin in treating facial flushing and persistent erythema of rosacea. Methods: Thirteen patients with rosacea who displayed facial flushing and persistent erythema received 1 to 4 weekly intramuscular injections of hydroxocobalamin 1 to 2 mg. The outcomes were measured using the Clinician's Erythema Assessment (CEA) by photography and an infrared thermometer to evaluate the difference in skin surface temperature (SST) of the cheeks before and after treatment. Results: Thirty minutes after the first dose of intramuscular injection of hydroxocobalamin, the mean CEA significantly reduced from 2.2± 0.6 to 1.2±0.4 (p<0.001), and average SST also significantly reduced from 36.7±0.70°C to 36.2±0.61°C (p<0.001) on the cheeks. Conclusion: In our patient sample, intramuscular administration of hydroxocobalamin was effective for immediate reduction of facial erythema associated with rosacea.

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.

Successful erlotinib rechallenge in an EGFR-mutant metastatic non-small cell lung cancer patient with afatinib-induced drug rash with eosinophilia and systemic symptoms: A case report.

Tyrosine kinase inhibitors (TKIs) are the standard treatment for epidermal growth factor receptor (EGFR)-mutant advanced-stage non-small cell lung cancer (NSCLC). However, TKIs can cause some severe adverse events, which are more prevalent within first-generation EGFR-TKI use than with second-generation inhibitors. Herein, we report a case of a patient with advanced-stage EGFR-mutant NSCLC who developed drug reaction with eosinophilia and systemic symptoms (DRESS) after receiving treatment with afatinib. The patient was successfully rechallenged with erlotinib, without manifestations of skin rash in the following 6 months. Hence, erlotinib may be considered a potential substitute for other EGFR-TKIs following DRESS occurrence.