Deep intronic founder mutations identified in the / gene are potential therapeutic targets for a high-frequency form of xeroderma pigmentosum.

Xeroderma pigmentosum (XP) is a genodermatosis defined by cutaneous photosensitivity with an increased risk of skin tumors because of DNA repair deficiency. The worldwide prevalence of XP is ~1 to 4 in million, with higher incidence in some countries and regions including Japan (1 in 22,000) and North Africa due to founder mutations and a high degree of consanguinity. Among XP, the complementation group F (XP-F), is a rare form (1% of worldwide XP); however, this is underdiagnosed, because the / gene is essential for fetal development and most of previously reported / pathogenic variants are hypomorphs causing relatively mild phenotypes.

Aicardi-Goutières syndrome with deficiency can be diagnosed by unscheduled DNA synthesis test.

Aicardi-Goutières syndrome (AGS) is a rare genetic disorder characterised by progressive encephalopathy, involving microcephaly, intracranial calcification, and cerebrospinal fluid lymphocytosis with increased interferon-α concentrations. The clinical features of AGS overlap with fetal cerebral anomalies caused by congenital infections, such as TORCH (toxoplasmosis, other, rubella, cytomegalovirus, and herpes), or with those of other genetic disorders showing neonatal microcephaly, including Cockayne syndrome (CS) with transcription-coupled DNA repair deficiency, and Seckel syndrome (SS) showing aberrant cell-cycle checkpoint signaling. Therefore, a differential diagnosis to confirm the genetic cause or a proof of infection should be considered.

Novel Application of Cultured Epithelial Autografts (CEA) with Expanded Mesh Skin Grafting Over an Artificial Dermis or Dermal Wound Bed Preparation.

Cultured epithelial autografts (CEA) with highly expanded mesh skin grafts were used for extensive adult burns covering more than 30% of the total body surface area. A prospective study on eight patients assessed subjective and objective findings up to a 12-month follow-up. The results of wound healing for over 1:6 mesh plus CEA, gap 1:6 mesh plus CEA, and 1:3 mesh were compared at 3, 6, and 12 months using extensibility, viscoelasticity, color, and transepidermal water loss by a generalized estimating equation (GEE) or generalized linear mixed model (GLMM).

Silver Sulfadiazine-Impregnated Hydrocolloid Dressing Is Beneficial in Split-Thickness Skin-Graft Donor Wound Healing in a Small Randomized Controlled Study.

Donor-site wound healing was tested with a silver sulfadiazine (SSD)-impregnated hydrocolloid dressing and hydrocolloid dressing applied manually by a physician on site. A total of 14 patients, 5 woman and 9 men (23-89 years old, average = 61.6 ± 18.

Teledermatology may play a role in reducing severity of pressure ulcers in both rural and urban settings.

Introduction: Teledermatology is already thought to be a valuable tool for patients in rural areas due to their lack of easy access to specialty care providers. This study explored the benefit of teledermatology for bedridden patients living in both rural and urban areas.

Methods: The following 4 studies were evaluated: 1) evaluation of conditions of 83 patients who had developed pressure ulcers before being admitted to the hospital; 2) evaluation of the circumstances of 53 patients with pressure ulcers who received home care; 3) survey of 321 home care nurses regarding their concerns about wound care; and 4) results of a teledermatology system aiming at early intervention for chronic wound treatment.

Reconstruction of lateral forefoot using reversed medial plantar flap with free anterolateral thigh flap.

Skin defects of the heel have frequently been reconstructed using the medial plantar flap; however, forefoot coverage has remained a challenge, because the alternatives for flap coverage have been very limited. We describe a case of malignant melanoma on the lateral forefoot that was radically removed and reconstructed successfully with a distally based medial plantar flap, together with a free anterolateral thigh flap. The advantages of this flap include that it does not reduce the vascular supply to the foot owing to reconstruction of the medial plantar vascular systems, reduces the risk of flap congestion, minimizes donor site morbidity, and enables the transport of structurally similar tissues to the plantar forefoot.