Focal Dermal Hypoplasia.

This case report describes facial atrophic papules with telangiectasias, streaked hypopigmented and hyperpigmented papules on the left side of the trunk and extremities, and soft yellow fat herniations.

Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2.

Palmoplantar keratoderma-congenital alopecia syndrome type 2 is an autosomal recessive disorder with an unknown genetic basis. In this study, we identified biallelic variants in the LSS gene in two unrelated palmoplantar keratoderma-congenital alopecia syndrome type 2 cases (c.3G>A, p.Met1? and c.1025T>G, p.Ile342Ser in patient 1; c.1522G>T, p.Gly508Trp and c.428+42T>A in patient 2) presenting with additional clinical features, including early-onset cataracts, pseudoainhum, and agenesis of the corpus callosum. LSS encodes lanosterol synthase (LSS), which functions in the cholesterol biosynthesis pathway by converting (S)-2,3-oxidosqualene to lanosterol. The c.3G>A variant resulted in an alternative translation initiation at residue Met81, producing an N-terminal truncated protein (LSS-ΔN80), as shown by immunoblotting. The c.428+42T>A variant introduced a potential splicing site, leading to a premature stop codon. Ex vivo studies revealed downregulation of LSS in both patients. Remarkably decreased lanosterol levels were found in vitro in three LSS variants, LSS-ΔN80, p.Ile342Ser, and p.Gly508Trp, suggesting a loss of enzymatic activity. Transmission electron microscopy and immunofluorescence showed abnormal cornified envelope formation in the stratum corneum of the patients. Taken together, our findings indicate LSS as a causative gene for palmoplantar keratoderma-congenital alopecia syndrome type 2, which emphasizes the importance of the cholesterol synthesis pathway in human skin cornification.

Genetics of Severe Cutaneous Adverse Reactions.

Severe cutaneous adverse reactions (SCARs) including Stevens-Johnson syndrome (SJS), toxic epidermal necrolysis (TEN), and drug rash with eosinophilia and systemic symptoms (DRESS) are T cells-mediated life-threatening immune reactions, most commonly induced by drug. The last decade has seen significant progress in SCARs research. Recent studies have unveiled the pathogenesis of SCARs involved in susceptible genes, including human leukocyte antigens (HLA) and drugs-T cell receptor (TCR) interaction that may trigger T cell activation with downstream immune signaling of cytokines/chemokines and specific cytotoxic proteins releases. Advances in identification of multiple genetic alleles associated with specific drugs related SCARS in different populations is an important breakthrough in recent years for prevention of SCARs. This article summarized the findings on genetic factors related to SJS/TEN, especially for HLA.

Progress in the Use of Platelet-rich Plasma in Aesthetic and Medical Dermatology.

Platelet-rich plasma (PRP) has been receiving considerable attention in the field of dermatology since the elucidation of its mechanism and reports of its clinical efficacy. PRP alone or in combination with other therapies has demonstrated benefits for some cosmetic problems and skin diseases. Only a few transient or short-term side effects have been reported with the use of PRP. In this review, we highlight the potential efficacy and benefits of PRP with a focus on its applications in skin rejuvenation, androgenic alopecia, alopecia areata, chronic vitiligo, melasma, inflammatory nail disorders, and psoriasis. We suggest that detailed studies be conducted to standardize PRP preparation and optimize treatment methods in order to further improve its usefulness.

The application of 595-nm pulsed dye laser for vascular anomalies in a Chinese population: a 10-year experience.

BACKGROUND: The 595-nm pulsed dye laser (PDL) has been used to treat vascular anomalies for about 30 years; however, there are insufficient data in Chinese patients concerning therapeutic efficacy, optimized parameters, and procedure techniques. OBJECTIVE: To study the efficacy and relevant factors in PDL therapy for vascular anomalies in Chinese patients. METHOD: We enrolled 431 patients with 8 different vascular anomalies and no previous treatment in this retrospective study. A detailed classification of vascular anomalies and various parameters and techniques of PDL were studied. The clinical outcomes were analysed using the Investigator Global Assessment. RESULTS: Improvements were significantly correlated with infantile haemangioma (IH) subtypes (p < 0.05). A significant correlation between efficacy and lesion colour, anatomical sites, and hypertrophic-type port-wine stain (PWS) was found (p < 0.05). There was no significant correlation between efficacy and age or sex (p > 0.05). CONCLUSION: PDL is an effective and safe therapeutic modality for managing vascular anomalies in Chinese patients. We determined that differentiating and identifying IH subtypes prior to treatment could be a useful parameter for predicting therapeutic results.  Lesion colour, sites, and hypertrophic changes in PWS are relevant therapeutic factors. PDL parameters and techniques differ according to the various vascular anomalies to achieve optimal results.

Topical 5-aminolevulinic acid photodynamic therapy for recalcitrant facial flat wart in Chinese subjects.

The facial flat wart (verruca plana) is not only a contagious viral disease, but also causes a disturbing cosmetic problem. Because 5-aminolevulinic acid photodynamic therapy has successfully treated human papilloma virus-related diseases, we employed 20% 5-aminolevulinic acid and a light emitting diode on three recalcitrant facial flat wart patients. Most lesions achieved complete remission after three or four sessions. However, a few non-elevated lesions did not respond to this method. An ablative therapeutic mode is required in addition to 5-aminolevulinic acid photodynamic therapy in such lesions. Therefore, we utilized an Er:YAG laser and 20% 5-aminolevulinic acid photodynamic therapy for one session and achieved an excellent result. Patients should be informed of the possible side-effects of this treatment, such as erythema, exfoliation and post-inflammatory hyperpigmentation, and the requirement for sun protection.