Background: Tiger tail hairs, Morse hairs or pili annulati is a nonsyndromic hair shaft disorder, characterized by alternating light and dark bands along the hair shaft.
Methods: The outer surface and the inner structure of longitudinally cut tiger tail hairs were examined with scanning electron microscopy.
Results: Hair specimens of five affected individuals showed small surface undulations with "curtain-like" folding of the hair cuticula (microcanaliculi).
CARD14-associated papulosquamous eruption (CAPE) was proposed in 2018 to describe the clinical features of psoriasis and pityriasis rubra pilaris with CARD 14 mutations. We report a 5-month-old female infant who developed CAPE-associated erythroderma. Although she did not respond to conventional therapies, she responded well to ustekinumab treatment at the age of 4 years.
View Article and Find Full Text PDFBackground: Little is known about the ultrastructure of pili annulati.
Objectives: To examine with transmission electron microscopy affected hairs of a family, whose diagnosis had been confirmed in five individuals with scanning electron microscopy, which showed surface undulations with "curtain-like" folding of the hair cuticula and to compare the findings with normal control.
Methods: Hairs of two affected patients and one control were embedded in resin and cut lengthwise to produce ultra-thin sections.
Panitumumab is a monoclonal antibody against the epidermal growth factor receptor used in metastatic colorectal cancer; in addition to tumor cells, it acts on epidermal keratinocytes and on the outer root sheath and presents skin toxicity in up to 90% of cases. A scanning electron microscope was used to examine the eyelashes and hairs of a 65-year-old patient with eyelash trichomegaly, curly hair, and paronychia undergoing treatment with panitumumab. Grooving in the hair shafts were identified, which were more evident in the eyelashes.
View Article and Find Full Text PDFMcCune - Albright syndrome is a genetic disease with cutaneous mosaicism caused by post-zygotic activating mutations in GNAS locus, it has a triad of fibrous bone dysplasia, café-au-lait macules and precocious puberty. We examined a 22-year-old female patient with café au lait spot in right side of the abdomen, with a chessboard - like distribution, extending to right thigh with geographical contours, she has also an ovarian cyst, scoliosis and truncal obesity. Biopsies were taken from the hyperpigmented area and processed for light microscopy and for transmission electron microscopy.
View Article and Find Full Text PDFLipoid proteinosis is a rare autosomal recessive disease, characterized by hyaline deposits of PAS-positive material in tissues due to mutations in the ECM1 gene. This study evaluated the ultrastructure of the skin of a 6-year-old child affected by this condition. The light microscopy identified PAS-positive hyaline deposits, which were more intense in the papillary dermis.
View Article and Find Full Text PDFAlopecia, neurologic defects, and endocrinopathy (ANE) syndrome is a rare ribosomopathy known to be caused by a p.(Leu351Pro) variant in the essential, conserved, nucleolar large ribosomal subunit (60S) assembly factor RBM28. We report the second family of ANE syndrome to date and a female pediatric ANE syndrome patient.
View Article and Find Full Text PDFOral inhibitors of epidermal growth factor receptor may have a wide range of cutaneous manifestations. Hair manifestations are observed in 10%-20% of the patients. At the ultrastructural level erlotinib-induced hair changes were already described as acquired pili torti et canaliculi.
View Article and Find Full Text PDFThe cutaneous toxicity of the epidermal growth factor receptor inhibitors, such as erlotinib, is associated with a wide range of manifestations, such as papulopustular eruptions, xerosis, paronychia, and changes in the growth pattern of hair and nails. Hair manifestations are seen in 10%-20% of the patients. A female patient taking erlotinib for lung cancer for 8 months noticed that her scalp hair became rough on palpation and that her eyelashes were elongated.
View Article and Find Full Text PDFChlorpromazine may induce abnormal skin hyperpigmentation in exposed areas, described as slate-gray, purple, or blue-grayish discoloration. A 58-year-old man with schizophrenia, had been taking chlorpromazine for 5 years, and his sun-exposed skin areas exhibited a blue-grayish color. Large deposits of brown pigment and granular basophilic material were seen in the dermis with light microscopy.
View Article and Find Full Text PDFAnetoderma is a rare cutaneous disorder characterized by focal loss of dermal elastic tissue due to unknown mechanisms. Primary anetoderma develops on clinical normal skin, without any preceding dermatosis and it can be associated with autoimmune conditions. Secondary anetoderma develops on the same area of a previous disorder, such as infectious, neoplastic or inflammatory diseases.
View Article and Find Full Text PDFAn Bras Dermatol
October 2016
Pitted keratolysis is a skin disorder that affects the stratum corneum of the plantar surface and is caused by Gram-positive bacteria. A 30-year-old male presented with small punched-out lesions on the plantar surface. A superficial shaving was carried out for scanning electron microscopy.
View Article and Find Full Text PDFBackground: Segmental Xp22.2 monosomy or a heterozygous HCCS mutation is associated with the microphthalmia with linear skin defects (MLS) or MIDAS (microphthalmia, dermal aplasia, and sclerocornea) syndrome, an X-linked disorder with male lethality. HCCS encodes the holocytochrome c-type synthase involved in mitochondrial oxidative phosphorylation (OXPHOS) and programmed cell death.
View Article and Find Full Text PDFPlasma cell cheilitis is an extremely rare disease, characterized by erythematous-violaceous, ulcerated and asymptomatic plaques, which evolve slowly. The histological characteristics include dermal infiltrate composed of mature plasmocytes. We report a case of Plasma cell angular cheilitis in a 58-year-old male, localized in the lateral oral commissure.
View Article and Find Full Text PDFNeuropathological hallmarks of Alzheimer's disease (AD) include amyloid plaque formation, neurofibrillary tangles, neuronal and synaptic loss. This study aims to identify the neuroprotective effects of the selenium compounds on the neurotoxicity of amyloid β(1-42) in primary cultures of murine hippocampal neurons. Samples were subjected to immunocytochemistry and western blotting techniques to determine the role of treatments on neuronal viability and synaptic protein SNAP-25.
View Article and Find Full Text PDFBackground: Acne vulgaris is a common skin disease affecting more than 85% of adolescents and often continuing into adulthood. Population-based studies to assess the patterns and severity of acne have not been achieved.
Objectives: The aim of this study was to assess the most common patterns of facial and trunk acne in young (18-year-old) men in a representative sample of male adolescents in a city in southern Brazil and to investigate the severity of inflammatory and non-inflammatory lesions in these individuals.
Harlequin syndrome happens in only one side of the face. In the affected half, the face does not sweat or flush even with simulation. Arms and trunk could also be affected.
View Article and Find Full Text PDFA 12-year-old boy with difficulty in wound healing and abnormal scars since early childhood was examined. Light microscopy showed loose and disperse dermal collagen with rare bundles, and fibroblasts show an irregular morphology. The fibrous sheath of hair presented a normal parallel distribution of the collagen fibers with normal spindle-shaped fibroblasts.
View Article and Find Full Text PDFBackground: The prevalence of seborrheic dermatitis (SD) in the general population is variable in the literature. Factors associated with SD are not well understood.
Objective: To verify the prevalence of scalp SD in a selected survey of male adolescents on mandatory military service and to find possible associated factors (skin color, socioeconomic level, triceps skin fold, acne, and tobacco consumption).