Scanning Electron Microscopy of the Inner and Outer Aspects of Tiger Tail Hairs.

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). In the inner surface cord-like linear structures with serpiginous, tortuous traject were seen, associated with some cavities. Conclusions: These findings suggest that this condition is due to some deficient protein synthesis/arrangement, not only due to cavities in the hair cortex. The term Tiger tail hair is a descriptive clinical term of little scientific rigor. This disorder has been reported mainly as pili annulati; however, rings are not observed. In analogy to pili canaliculi, in which well-formed grooving is observed in the hair surface, we suggest the term pili microcanaliculi to describe this condition, based in the ultrastructural findings.

Successful treatment with ustekinumab in CARD14-associated papulosquamous eruption in a Brazilian child.

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.

Transmission electron microscopy of pili annulati.

BACKGROUND: 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. RESULTS: The normal hair showed a parallel arrangement of dark lines associated with less electron-dense wide bands. Small cavities could be observed, mostly in the dark lines, affected hairs had a large number of cavities, associated or not with the insertion of melanosomes and loss of parallelism of the dark lines. Higher magnification showed a significant loss of this parallelism, resembling "wood grooves". Widened dark lines were observed in some areas. STUDY LIMITATIONS: Only a few hairs were examined. CONCLUSIONS: The present results suggest that the microcanaliculi of the hair surface, easily found with scanning electron microscopy, may be secondary not only to the cavities seen in the sections but also to the disorder of proteins that form this region, demonstrated by the changes of the cortex dark lines.

Scanning electron microscopy of panitumumab-induced eyelash and hair alterations - Pili canaliculi.

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. Similar to oral epidermal growth factor inhibitors (erlotinib and gefitinib), panitumumab can cause acquired pili canaliculi.

McCune-Albright syndrome - A case report with transmission electron microscopy.

McCune - 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. Light microscopy showed increased melanin pigment with HE staining. Immunohistochemistry with melanocytic markers (HMB-45 and Melan-A) revealed a normal number of melanocytes. Transmission electron microscopy demonstrated normal epidermal structures, such as desmosomes, cytokeratin filaments and hemidesmosomes. With high magnifications an irregular melanossomal contour was seen, with some indentations in their outline.

Ultrastructural aspects of the skin in lipoid proteinosis (Urbach-Wiethe disease).

Lipoid 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. Scanning electron microscopy of the dermis showed a compact papillary dermis and fibrillar deposits in the middle dermis. Transmission electron microscopy clearly showed the deposition of fibrillar material in the dermis, forming clusters adherent to elastic fibers, between the collagen bundles and the collagen fibers, and also filling up the cytoplasm of dermal fibroblasts.

Biallelic splicing variants in the nucleolar 60S assembly factor RBM28 cause the ribosomopathy ANE syndrome.

Alopecia, 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. The patient presented with alopecia, craniofacial malformations, hypoplastic pituitary, and hair and skin abnormalities. Unlike the previously reported patients with the p.(Leu351Pro) RBM28 variant, this ANE syndrome patient possesses biallelic precursor messenger RNA (pre-mRNA) splicing variants at the 5' splice sites of exon 5 (ΔE5) and exon 8 (ΔE8) of RBM28 (NM_018077.2:c.[541+1_541+2delinsA]; [946G > T]). In silico analyses and minigene splicing experiments in cells indicate that each splice variant specifically causes skipping of its respective mutant exon. Because the ΔE5 variant results in an in-frame 31 amino acid deletion (p.(Asp150_Lys180del)) in RBM28 while the ΔE8 variant leads to a premature stop codon in exon 9, we predicted that the ΔE5 variant would produce partially functional RBM28 but the ΔE8 variant would not produce functional protein. Using a yeast model, we demonstrate that the ΔE5 variant does indeed lead to reduced overall growth and large subunit ribosomal RNA (rRNA) production and pre-rRNA processing. In contrast, the ΔE8 variant is comparably null, implying that the partially functional ΔE5 RBM28 protein enables survival but precludes correct development. This discovery further defines the underlying molecular pathology of ANE syndrome to include genetic variants that cause aberrant splicing in RBM28 pre-mRNA and highlights the centrality of nucleolar processes in human genetic disease.

Scanning Electron Microscopy of Subclinical Gefitinib-Induced Hair Changes.

Oral 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. We examined a 78-year-old female patient, with lung carcinoma, taking gefitinib for 15 months. The treatment has no side effects with good tolerance and tumor response. Although the patient had not observed any change on the hairs under the therapy, some specimens were obtained to be examined in natura with scanning electron microscopy. Under low magnification incipient grooving was observed on the hair surface, tortions or angulations of the hair shaft were not found. With higher magnifications the surface grooving was even more evident. Our findings show that gefitinib may cause subclinical hair changes, similar to those described at the ultrastructural level with erlotinib.

Scanning Electron Microscopy of Erlotinib-induced Hair Changes: Pili Torti et Canaliculi.

The 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. Some scalp hairs were cut and proximal and distal portions were examined in natura with scanning electron microscopy. Torsions and important grooving were seen in the proximal portions, but not in distal hair portions. Erlotinib-induced hair changes are pili torti et canaliculi.

Pitted keratolysis.

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. Hypokeratosis was noted on the plantar skin and in the acrosyringium, where the normal elimination of corneocytes was not seen. At higher magnification (x 3,500) bacteria were easily found on the surface and the described transversal bacterial septation was observed.

Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome.

BACKGROUND: 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. METHODS: We characterized the X-chromosomal abnormality encompassing HCCS or an intragenic mutation in this gene in six new female patients with an MLS phenotype by cytogenetic analysis, fluorescence in situ hybridization, sequencing, and quantitative real-time PCR. The X chromosome inactivation (XCI) pattern was determined and clinical data of the patients were reviewed. RESULTS: Two terminal Xp deletions of ≥ 11.2 Mb, two submicroscopic copy number losses, one of ~850 kb and one of ≥ 3 Mb, all covering HCCS, 1 nonsense, and one mosaic 2-bp deletion in HCCS are reported. All females had a completely (>98:2) or slightly skewed (82:18) XCI pattern. The most consistent clinical features were microphthalmia/anophthalmia and sclerocornea/corneal opacity in all patients and congenital linear skin defects in 4/6. Additional manifestations included various ocular anomalies, cardiac defects, brain imaging abnormalities, microcephaly, postnatal growth retardation, and facial dysmorphism. However, no obvious clinical sign was observed in three female carriers who were relatives of one patient. CONCLUSION: Our findings showed a wide phenotypic spectrum ranging from asymptomatic females with an HCCS mutation to patients with a neonatal lethal MLS form. Somatic mosaicism and the different ability of embryonic cells to cope with an OXPHOS defect and/or enhanced cell death upon HCCS deficiency likely underlie the great variability in phenotypes.

"Angular" plasma cell cheilitis.

Plasma 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.

Selenium compounds prevent amyloid ß-peptide neurotoxicity in rat primary hippocampal neurons.

Neuropathological 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 ß(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. We observed a reduced cell viability amyloid ß-peptide (1-42)-induced. When cells were co-treated with amyloid ß-peptide (1-42) and selenium compounds, we verified a strong increase in relative cell viability and in the level of synaptic marker synaptosomal-associated protein SNAP-25 induced by selenium compounds.

Harlequin syndrome in childhood--case report.

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. This condition is induced by heat, exercise and emotional factors. The article reports a case of a nine-year-old female with a 3-year history of unilateral flushing and sweating after exercise; a brief literature review is included. Despite the rarity of this syndrome, dermatologists should recognize this condition and refer these patients to ophthalmological and neurological examination.

Scalp seborrheic dermatitis: prevalence and associated factors in male adolescents.

BACKGROUND: 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). METHODS: This cross-sectional study included 18-year-old male adolescents on compulsory military service in a southern Brazilian city. Scalp SD was considered as erythema and scaling in any part of the scalp. Skin color, socioeconomic level, triceps skin fold, acne, and tabagism comprised the independent variables studied in our population. RESULTS: A total of 2201 adolescents entered the study. The global prevalence of scalp SD was 11%. White skin [adjusted prevalence ratio (PR) 1.42; 95% CI 1.06-1.92; P = 0.02] and triceps skin fold >19.5 mm (adjusted PR 1.56; 95% CI 1.12-2.18; P = 0.009) were significantly associated with scalp SD. The other variables were not associated with the outcome. CONCLUSIONS: Prevalence of scalp SD in our survey of male adolescents was 11%. The occurrence of scalp SD was associated with white skin and a higher body fat content.