Indian Dermatology Online Journal最新文献

Anti-melanoma differentiation-associated gene-5 antibody (anti-MDA-5 Ab) associated with clinically amyopathic dermatomyositis (CADM) is characterized by vasculopathic ulcers, mechanic's hands, and progressive interstitial lung disease (ILD). We present a case of 38-year-old female who presented with all these classical clinical features. Her investigations revealed normal serum muscle enzyme levels and the presence of anti-Mi2 and anti-MDA-5 antibodies by immunoblot. Imaging study revealed changes suggestive of ILD. She was treated with rituximab along with oral glucocorticoid and other supportive treatment to which she didn't respond adequately. Recently, it has been postulated that plasmacytoid dendritic cells produce interferon which is responsible for tissue injury in dermatomyositis (DM). Tofacitinib, by inhibiting JAK-STAT pathway, inhibits downstream cytokines, mainly type 1 interferon. So, we added tofacitinib as adjuvant therapy in our patient. Post-six months of commencement of adjuvant tofacitinib, patient experienced remarkable improvement in cutaneous features as well as in pulmonary fibrosis.

Ectodermal dysplasias are a heterogeneous group of disorders that are characterized by abnormal development of ectodermal structures like hair, teeth, nails, and sweat glands. Alhough they were earlier classified according to the structures affected and hence the clinical manifestations, recent developments inch towards a genetic basis for classification. They are currently divided into four groups of disorders based on the pathway involved, which includes the ectodysplasin/nuclear factor-kappa B (NFKB) pathway, wingless-type MMTV integration site family, member 10 ([wingless related integration site] WNT10), tumor protein p63 (TP63), and the structural group. In spite of attempts at the segregation of the various disorders, there is a great degree of overlap in clinical features among the conditions, which makes a thorough history-taking and clinical examination important in helping us arrive at a diagnosis and judge the various systems involved. A multidisciplinary approach forms the crux of the management of patients with ectodermal dysplasias and their families, with a focus on education, counseling, prosthesis, and an overall rehabilitative outlook. Special attention must also be paid to screening family members for varying severities of the disorders, and an attempt must be made at a genetic diagnosis with genetic counseling.

Trichostasis spinulosa is a disorder of hair follicles characterized by the retention of vellus telogen club hair, leading to the formation of comedo-like lesions. It usually presents over the face and is frequently asymptomatic. We report a 53-year-old female who presented with multiple itchy, discrete, bluish-black, 2-3 mm comedo-like follicular papules and pustules on her breast and lower abdomen for the past 2 years. In-vivo dermoscopy showed keratotic plugs with a tuft of hair. Extraction dermoscopy yielded a cystic structure filled with keratin and multiple vellus telogen club hairs. Histology showed a cyst lined by squamous epithelium containing abundant laminated keratinous debris and a vellus hair shaft. Truncal or breast involvement, as seen in the present case, is relatively rare, and can be pruritic, causing significant morbidity due to itching and secondary bacterial infections. Dermoscopy, especially ex-vivo extraction dermoscopy, can show diagnostic features and obviate the need for abiopsy.