Rare indolent zygomycosis caused by subcutaneous Saksenaea vasiformis infection.

We report an immunocompetent male child with chronic, indolent subcutaneous limb infection akin to basidiobolomycosis, but was shown by PCR method to be caused by a mucoralean fungus Saksenaea vasiformis. Treatment with oral potassium iodide solution was effective. This finding highlights the consideration of treatment decision according to the phenotypic severity as opposed to species identified.

Disseminated Autochthonous Dermal Leishmaniasis Caused by (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 is the main cause of infection in Thailand.

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.

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.

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).

Molecular diagnosis of genodermatoses.

The progress of molecular genetics helps clinicians to prove or exclude a suspected diagnosis for a vast and yet increasing number of genodermatoses. This leads to precise genetic counselling, prenatal diagnosis and preimplantation genetic haplotyping for many inherited skin conditions. It is also helpful in such occasions as phenocopy, late onset and incomplete penetrance, uniparental disomy, mitochondrial inheritance and pigmentary mosaicism.

Focal dermal hypoplasia resulting from a new nonsense mutation, p.E300X, in the PORCN gene.

Background: Focal dermal hypoplasia (FDH) (OMIM 305600) is an X-linked dominant disorder of ecto-mesodermal development. Also known as Goltz syndrome, FDH presents with characteristic linear streaks of hypoplastic dermis and variable abnormalities of bone, nails, hair, limbs, teeth and eyes. The molecular basis of FDH involves mutations in the PORCN gene, which encodes an enzyme that allows membrane targeting and secretion of several Wnt proteins critical for normal tissue development.

Globalization of DNA-based prenatal diagnosis for recessive dystrophic epidermolysis bullosa.

Globalization of economies and improvements in international telecommunications has led to increased demand for better access to the latest developments in healthcare, wherever they may be available. In this report, we describe the first case from Thailand of DNA-based prenatal testing of a mother at risk for recurrence of severe recessive dystrophic epidermolysis bullosa (RDEB), whose affected child had died in early childhood. In the absence of previous access to prenatal diagnostic tests, the mother had undergone several terminations for fear of having another affected child.

Unusual molecular findings in Kindler syndrome.

Kindler syndrome (KS) is a rare inherited skin disorder with blistering and poikiloderma as its main clinical features. It is caused by loss-of-function mutations in the C20orf42 (KIND1) gene which encodes kindlin-1, an actin cytoskeleton-focal contact-associated protein which is predominantly expressed in keratinocytes. We investigated the molecular basis of KS in a 16-year-old Indian boy who had additional clinical findings, including scleroatrophic changes of the hands and feet, pseudoainhum and early onset of squamous cell carcinoma on his foot.

Functional redundancy of extracellular matrix protein 1 in epidermal differentiation.

Background: Extracellular matrix protein 1 (ECM1) is a secreted protein expressed in skin. Its dermatological relevance has been highlighted by the discovery of loss-of-function mutations in ECM1 in patients with lipoid proteinosis (LiP).

Objectives: To determine the role of ECM1 in epidermal differentiation by examining gene and protein expression of epidermal differentiation markers in individuals with LiP and histological assessment of transgenic mouse skin that overexpresses Ecm1a in basal or suprabasal epidermis.

Complete maternal isodisomy of chromosome 3 in a child with recessive dystrophic epidermolysis bullosa but no other phenotypic abnormalities.

The mechanobullous disease Hallopeau-Siemens recessive dystrophic epidermolysis bullosa (HS-RDEB) results from mutations in the type VII collagen gene (COL7A1) on chromosome 3p21.31. Typically, there are frameshift, splice site, or nonsense mutations on both alleles.

Molecular basis of Kindler syndrome in Italy: novel and recurrent Alu/Alu recombination, splice site, nonsense, and frameshift mutations in the KIND1 gene.

Kindler syndrome (KS) is a rare autosomal recessive disorder characterized by skin blistering in childhood followed by photosensitivity and progressive poikiloderma. Most cases of KS result from mutations in the KIND1 gene encoding kindlin-1, a component of focal adhesions in keratinocytes. Here, we report novel and recurrent KIND1 gene mutations in nine unrelated Italian KS individuals.

Target proteins in inherited and acquired blistering skin disorders.

Maintenance of an intact epidermis depends on secure adhesion between adjacent keratinocytes, and between basal keratinocytes and the underlying epidermal basement membrane. The major adhesion units that achieve this are the hemidesmosomes and desmosomes, but when these structures are disrupted, e.g.

Transient bullous dermolysis of the newborn in three generations.

Transient bullous dermolysis of the newborn (TBDN) is a rare form of dystrophic epidermolysis bullosa (DEB) that presents with neonatal skin blistering but which usually improves markedly during early life or even remits completely. Skin biopsies reveal abnormal intraepidermal accumulation of type VII collagen which results in poorly constructed anchoring fibrils and a sublamina densa plane of blister formation. The reason for the spontaneous clinical improvement is not known, but there is a gradual recovery in type VII collagen secretion from basal keratinocytes to the dermal-epidermal junction, with subsequent improvement or correction of anchoring fibril morphology.

Human hair abnormalities resulting from inherited desmosome gene mutations.

Over the last eight years, several naturally occurring human gene mutations in structural components of desmosomes, cell-cell adhesion junctions found in skin, heart and meninges, have been reported. These comprise dominant or recessive mutations in plakophilin 1, plakophilin 2, desmoplakin, desmoglein 1, desmoglein 4, plakoglobin and corneodesmosin. Of note, as well as compromising tissue integrity, many of the resulting phenotypes have been associated with visible changes in hair.