Clinical and molecular characteristics of autosomal recessive congenital ichthyosis in Thailand.

BACKGROUND: Autosomal recessive congenital ichthyosis (ARCI) is a heterogenous group of rare keratinization disorders. To date, more than 13 causative genes have been identified. However, data on clinical and molecular characteristics including genotype-phenotype correlation are lacking in Thailand. OBJECTIVE: We collected cases diagnosed with non-syndromic ARCI and syndromic recessive congenital ichthyosis at the Institute of Dermatology from 2011 to 2021 and performed genetic testing with next-generation sequencing and assessed clinical details. METHODS: Baseline demographic data, birth history, family history, skin manifestations at birth, current cutaneous manifestations, comorbidities, and response to treatments were assessed. DNA was screened for mutations using targeted gene sequencing of 45 genes related to congenital ichthyosis. RESULTS: A total of 33 patients were analyzed with an average age of 23.8 ± 13.9 years. Congenital ichthyosiform erythroderma (CIE) was most common (60.6%), followed by lamellar ichthyosis (18.2%), self-improving congenital ichthyosis (6.1%), Netherton syndrome (6.1%), ichthyosis prematurity syndrome (3%), Sjögren-Larsson syndrome (3%) and bathing suit ichthyosis (3%). Eight genes were found with pathogenic variants in our cohort as follows: ABCA12 42.4% (14/33), NIPAL4 24.2% (8/33), TGM1 15.2% (5/33), SPINK5 6.1% (2/33), ALDH3A2 3% (1/33), SLC27A4 3% (1/33), CYP4F22 3% (1/33), and ST14 3% (1/33). Clinically, 79% of patients with ABCA12 pathogenic variants in this study had CIE, 79% of w had novel biallelic pathogenic compound heterozygous variants, whereas 21% had homozygous missense variants. CONCLUSIONS: This is the first study to describe clinical and molecular findings of ARCI in a cohort from Thailand. Our findings demonstrate the clinical spectrum of the diseases and expand the molecular findings in a Southeast Asian population.

Treatment of male androgenetic alopecia with topical products containing Serenoa repens extract.

BACKGROUND/OBJECTIVES: Male androgenetic alopecia (AGA) is a common hair problem. Serenoa repens extract has been shown to inhibit both types of 5-α reductase and, when taken orally, has been shown to increase hair growth in AGA patients. The aim of this study was to assess the efficacy of topical products containing S. repens extract for the treatment of male AGA. METHODS: This was a pilot, prospective, open, within-subject comparison limited to 24 weeks using no placebo controls. In all, 50 male volunteers aged between 20 and 50 years received topical S. repens products for 24 weeks. The primary end-point was a hair count in an area of 2.54 cm(2) at week 24. Secondary end-points included hair restoration, investigators' photographic assessment, patients' evaluation and discovering adverse events. RESULTS: The average hair count and terminal hair count increased at weeks 12 and 24 compared to baseline. Some of these positive results levelled off at week 24, presumably because the concentrated topical product containing S. repens extract was stopped after 4 weeks. The patients were satisfied with the products and the side-effects were limited. CONCLUSIONS: The topical application of S. repens extract could be an alternative treatment in male pattern baldness in male patients who do not want or cannot tolerate the side-effects of standard medications, but the use of a concentrated S. repens product beyond 4 weeks may be necessary for sustained efficacy.

Co-existence of porokeratosis variants concurrent with Bowen's disease: two rare cases report.

Coexisting variants of porokeratosis rarely occurs. Disseminated superficial porokeratosis (DSP) is characterized by multiple uniform small annular papules distributed all over body. DSP commonly coexist with linear porokeratosis (LP), but it is uncommon for DSP to coexist with porokeratosis of Mibelli (PM). PM presents with central atrophic erythematous plaques and thread-like elevated border. It occurs mainly on extremities. Although malignant transformation can be found in the porokeratosis, there is still no report case of coexisting variants of porokeratosis concurrent with Bowen's disease. The clinical and histopathologic finding of rare coexisting variants of porokeratosis (PM and DSP) concurrent with squamous dysplasia is described.

Congenital self-healing reticulohistiocytosis presented with multiple hypopigmented flat-topped papules: a case report and review of literatures.

Congenital self-healing reticulohistiocytosis, also known as Hashimoto-Pritzker disease, is a single system Langerhans cell histiocytosis that typically presents in healthy newborns and spontaneously regresses. In the present report, we described a 2-month-old Thai female newborn with multiple hypopigmented flat-topped papules without any internal organ involvement including normal blood cell count, urinary examination, liver and renal functions, bone scan, chest X-ray, abdominal ultrasound, and bone marrow biopsy. The histopathology revealed typical findings of Langerhans cell histiocytosis, which was confirmed by the immunohistochemical staining CDla and S100. Our patient's lesions had spontaneously regressed within afew months, and no new lesion recurred afterfour months follow-up.

Disseminated Autochthonous Dermal Leishmaniasis Caused by Leishmania siamensis (PCM2 Trang) in a Patient from Central Thailand Infected with Human Immunodeficiency Virus.

AbstractSeveral case reports of autochthonous leishmaniasis in Thailand have been published since 1996. Most of the previous cases presented with visceral leishmaniasis (VL) and were mostly reported in southern part of Thailand. Recently, it has been evident that Leishmania martiniquensis is the main cause of Leishmania infection in Thailand. However, Leishmania siamensis (PCM2 Trang isolate) was found to be of a separate lineage with restricted distribution in southern Thailand and also a cause of disseminated dermal and visceral leishmaniasis in one published case. Here we report the first patient from central Thailand with human immunodeficiency virus infection presenting with disseminated dermal leishmaniasis. Polymerase chain reaction and DNA sequencing analysis (large subunit of RNA polymerase II and 18S ribosomal RNA internal transcribed spacer 1) from the tissue biopsy sample revealed the pathogen sequences to be highly homologous to PCM2 Trang strain previously reported from southern Thailand.

Epidermal permeability barrier in the treatment of keratosis pilaris.

Objectives. To evaluate and compare the efficacy, safety, hydrating properties, and tolerability of 10% lactic acid (LA) and 5% salicylic acid (SA) in the therapy of keratosis pilaris (KP). Material and Method. Patients with KP were randomized for treatment with either 10% LA or 5% SA creams being applied twice daily for 3 months. The patients were clinically assessed at baseline and after 4, 8, and 12 weeks of treatment and 4 weeks after treatment. The functional properties of the stratum corneum (SC) were determined before treatment, 12 weeks, and follow-up phase by high-frequency conductance and transepidermal water loss (TEWL). Results. At the end of the trial, the mean reduction of the lesions from baseline was statistically significant for 10% LA (66%) and 5% SA (52%). During the treatment, higher conductance values were found on both group and this improvement was maintained until the follow up period. No significant differences in transepidermal water loss were observed after treatment. The adverse effects were limited to mild irritation localized on the skin without systemic side effect. Conclusion. The study demonstrated that 10% LA and 5% SA are beneficial to treat KP with the significantly clearance and marked improvement as by instrumental evaluation.

Eccrine Angiomatous Hamartoma in an Adolescent.

Eccrine angiomatous hamartoma is a rare hamartoma that usually affects childhood and adolescence. In this report we describe a typical onset and clinical presentation of eccrine angiomatous hamartoma. Histopathological analysis and immunohistochemical staining of the sections were done to confirm the diagnosis.

Delayed development of foreign body granuloma from an implanted permanent cardiac pacemaker.

We report a case of a late-developing cutaneous mass on the chest wall that proved to be non-specific mixed cell granuloma adjacent to the lead-electrode parts of a permanent cardiac-pacemaker that had been implanted in the left chest of an 81-year-old man 6 years previously. The lesion was treated by cardiac surgeons, whose management consisted of cutting only the intradermal part of the lead-electrodes followed by tissue curettage, leaving the other portion embedded in the subendocardium because its removal could cause serious complications. Dermatologists should be alert to such late complications of embedded permanent pacemakers. Their removal requires close cooperation with cardiac surgeons to avoid unexpected complications.

Development of a novel Ag-specific immunotherapy using CpG oligodeoxynucleotides in a new, unique mouse cutaneous eosinophilic inflammation model.

The number of patients with severe atopic dermatitis (AD) has been on the rise recently. We are therefore urgently in need of a treatment that can suppress Th2 cell-mediated responses in an Ag-specific fashion. Oligodeoxynucleotides (ODN)containing CpG motifs (CpG ODN) have been highlighted as immunomodulators that reduce Th2-mediated responses. To determine the effect of CpG ODN on Th2-mediated skin inflammation, we first developed a reproducible murine model of protein Ag-induced eosinophilic inflammation that is accompanied by epidermal acanthosis and increased serum IgE levels as seen in AD. In this model we found that treatment with CpG ODN during epicutaneous sensitization in previously i.p.-primed mice prevented the development of Th2-mediated responses. Furthermore, to evaluate the therapeutic effect of CpG ODN on established eosinophilic inflammation, mice were treated with a course of the immunotherapy at a skin site remote from the area of Ag application prior to the second 1-wk epicutaneous exposure to Ag. Therapeutic treatment with CpG ODN plus Ag, but not that with CpG ODN alone, could reverse the established eosinophilic inflammation. The presented results provide strong evidence for the feasibility of a novel Ag-specific immunomodulator to treat cutaneous eosinophilic inflammation such as that characteristically found in patients with severe AD.