C9orf72-associated dipeptide protein repeats form A11-positive oligomers in amyotrophic lateral sclerosis and frontotemporal dementia.

Hexanucleotide repeat expansion in C9orf72 is one of the most common causes of amyotrophic lateral sclerosis and frontotemporal dementia. The hexanucleotide expansion, formed by GGGGCC (G4C2) repeats, leads to the production of five dipeptide protein repeats (DPRs) via repeat-associated non-AUG translation. Among the five dipeptide repeats, Gly-Arg, Pro-Arg, and Gly-Ala form neuronal inclusions that contain aggregates of the peptides. Several studies have attempted to model DPR-associated toxicity using various repeat lengths, which suggests a unique conformation that is cytotoxic and is independent of the repeat length. However, the structural characteristics of DPR aggregates have yet to be determined. Increasing evidence suggests that soluble species, such as oligomers, are the main cause of toxicity in proteinopathies, such as Alzheimer's and Parkinson's disease. To investigate the ability of DPRs to aggregate and form toxic oligomers, we adopted a reductionist approach using small dipeptide repeats of 3, 6, and 12. This study shows that DPRs, particularly glycine-arginine and proline-arginine, form oligomers that exhibit distinct dye-binding properties and morphologies. Importantly, we also identified toxic DPR oligomers in amyotrophic lateral sclerosis and frontotemporal dementia postmortem brains that are morphologically similar to those generated recombinantly. This study demonstrates that, similar to soluble oligomers formed by various amyloid proteins, DPR oligomers are toxic, independent of their repeat length.

Yellow pseudochromhidrosis in a young female.

Chromhidrosis is a rare disorder in which there is pigmentation of sweat in a variety of colors. It can be classified into apocrine, pseudoeccrine, and true eccrine chromhidrosis. Pseudochromhidrosis is a condition in which the excreted sweat is colorless, but later acquires color due to contact with chromogenic chemicals. Systemic and topical antibiotics are the mainstay of treatment. Although it does not constitute a major health issue, it causes psychological stress and social embarrassment. A 20-year-old female presented to us with yellow-colored sweat and discoloration of clothes since 1 month. Routine laboratory investigations were normal. Skin scrapings were negative for fungus and bacteria. Skin biopsy was also normal. She was labelled as a case of pseudochromhidrosis, and oral and topical antibiotics were prescribed, to which she responded well.

A Rare Association of Pili Multigemini and Rolled Hairs in a Young Female.

Pili multigemini and circle hairs (CHs) both are hair shaft deformities. Being asymptomatic and benign they are often under-reported in medical science. Till now, literature showed the involvement of only males. CHs are seen in obese individuals with sedentary lifestyle and pili multigemini is seen in adults over beard and children over scalp. Cosmetic concern in a young female with asymptomatic hyperpigmented papular lesions brought her to dermatology clinic. Apart from histopathology, dermatoscopy is a noninvasive technique that can be utilized for the evaluation of various hair disorders, especially like this.

A Study of Clinical Profile and Quality of Life in Patients with Scabies at a Rural Tertiary Care Centre.

INTRODUCTION: Scabies is a contagious disease primarily related to poverty and overcrowding, it rapidly spreads from person to person specially in people with poor hygiene. We come across many patients from rural areas with scabies. In India the incidence ranges from 13% to 59% in rural and urban areas. Many people complain of sleep disturbances and affection of work and leisure activities due to itching. Very few studies are done in India about the affection of quality of life in such patients. AIM: To study the demographic details, clinical profile and quality of life in patients with scabies. MATERIALS AND METHODS: A prospective, observational and cross-sectional study conducted at Department of Dermatology and Venereology, rural based tertiary care centre, Gujarat for a period of 6 months from March to August 2015, after ethical approval from the institute. Study included all patients with clinical features suggestive of scabies. The data including age, sex, occupation, education, socioeconomic status, complaints, past history, family history and clinical features along with the questionnaire for affection of quality of life were recorded in predesigned proforma and detailed analysis was done. Total of 102 newly diagnosed scabies patients attending skin OPD were included in the study. RESULTS: Out of 102 patients, 50.98% were males. The most common age group affected was 21-40 years, in 44.11% patients. Students were commonly affected with 41.17% followed by housewives with 20.58% cases. Most common lesion seen was papules in 84.3% followed by excoriations in 82.3% cases. Maximum 51.6% adults had small effect on quality of life while 62.5% children reported minimal effect on quality of life. CONCLUSION: Scabies is an important and commonly encountered health problem which is highly contagious and if not attended timely and adequately can affect the quality of life in the form of work affection, sleep disturbances and psychosocial problems in patients as well as its family members. This could be easily prevented if the patients of scabies are recognised and treated early and proper awareness is must to avoid recurrences. The profile of scabies patients helps in early recognition of scabies even at the peripheral centers.

Skin: A mirror of internal malignancy.

Skin manifestations are a reflection of many of the internal diseases. Sometimes, skin disease may be the only manifestation of the internal disease. Internal malignancies may give rise to a number of cutaneous manifestations through their immunological, metabolic, and metastatic consequences. Curth proposed criteria to establish a causal relationship between a dermatosis and a malignant internal disease. Malignancy can present with a plethora of cutaneous manifestations. Here, we describe in brief about various skin manifestations of internal malignancies.