Major histocompatibility complex (MHC) gene frequency in acquired dermal macular hyperpigmentation: a case control study.

BACKGROUND: Human leukocyte antigen (HLA) allele frequencies have a known association with the pathogenesis of various autoimmune diseases. METHODS: We recruited 31 Indian patients of acquired dermal macular hyperpigmentation (ADMH) and 60 unrelated, age-and-gender-matched healthy controls. After history and clinical examination, 5 ml of blood in EDTA vials was collected. These samples were subjected to DNA extraction and the expression of HLA A, B, C, DR, DQ-A, and DQ-B was studied. RESULTS: There was a predominance of females with a gender ratio of 23 : 8 and the most common phototype was Fitzpatrick type IV (83.9%). There was a significant association of HLA A*03:01 (OR: 5.8, CI: 1.7-17.0, P = 0.005), HLA B*07:02 (OR: 5.3, CI: 1.9-14.6, P = 0.003), HLA C*07:02 (OR: 4.3, CI: 1.8-9.6, P = 0.001), HLA DRB1*10:01 (OR: 7.6, CI: 1.7-38.00, P = 0.022), and HLA DRB1*15:02 (OR: 31.0, CI: 4.4-341.8, P < 0.001) with patients compared to controls, whereas HLA DQB*03:01 was less associated with patients compared to controls (OR: 0.2, CI: 0.0-0.6, P = 0.009). CONCLUSION: Patients with ADMH are more likely to have the HLA A*03:01, HLA B 07*02, HLA C*07:02, HLA DRB1*10:01, HLA DRB1*15:02 and less likely to have the HLA DQB*03:01 allele. Larger cohort studies may thus be conducted studying these specific alleles.

Acquired dermal macular hyperpigmentation: an overview of the recent updates.

Acquired dermal macular hyperpigmentation (ADMH), previously known as macular pigmentation of uncertain etiology (MPUE), is an umbrella concept that unifies the distinct but overlapping acquired dermal pigmentary disorders like lichen planus pigmentosus, ashy dermatosis, erythema dyschromicum perstans, Riehl's melanosis and pigmented contact dermatitis. All of these disorders usually lack a clinically apparent inflammatory phase, are characterised by dermal pigmentation clinically and histologically, and have a variable protracted disease course. Recently, a proposal has been made to classify these disorders into those with and without contact sensitisation. Dermoscopy is essentially similar across the spectrum of these disorders, and is useful for diagnosis and therapeutic response monitoring. Scoring system has been validated for the same. The treatment of ADMH remains challenging, with multiple topicals, oral therapies including mycophenolate mofetil, and lasers tried. Need of the hour is randomised controlled trials to enhance the therapeutic armamentarium.

Clinico-Epidemiological Characteristics of Hidradenitis Suppurativa: A Retrospective Cohort Study from a Tertiary Care Centre in Northern India.

BACKGROUND: Hidradenitis suppurativa (HS) is a chronic debilitating disease with a relapsing and remitting course. Due to delay in diagnosis, patients are often referred when the disease is very severe. Management strategies vary across multiple guidelines. AIMS: The aim of this study was to analyze the demographic and clinical characteristics of patients with HS among our outpatient attendees and to study the outcomes of various treatments offered. METHODOLOGY: This was a retrospective cohort study analyzing case files and photographic records of all patients diagnosed with HS, presenting to our tertiary care institute over 18 months. RESULTS: A total of 22 patients (10 males and 12 females) of HS were studied with majority having Hurley stage 2 and 3 diseases. The most common site affected was axilla. Overweight and obese patients were 45.4% and 18.1%, respectively. Rifampicin-clindamycin combination or doxycycline was the first line therapy offered. Adalimumab was given in only two patients but could not be continued for long term due to financial issues. Surgery was performed in six patients. Procedures included wide local excision and deroofing which is left to heal by secondary intention. Least number of remissions and most satisfactory improvement was seen with a combination of antibiotics and surgery compared to medical treatment alone. LIMITATIONS: Retrospective nature and a single center study were the major drawbacks. CONCLUSION: Patients undergoing procedural intervention in addition to pharmacotherapy have best overall outcomes and involvement of a multidisciplinary team plays a key role, however a larger follow-up study is required.

Expression of Th17- and Treg-specific transcription factors in vitiligo patients.

BACKGROUND: Vitiligo is mainly considered an autoimmune skin disease as the number of IL-17 producing Th17 cells, involved in the development of autoimmune and inflammatory pathologies, increased in vitiligo skin. T regulatory cells (Tregs) seem to be altered during the disease. Thus, there must be some upstream molecular factors that regulate the cellular response to apoptotic and inflammatory stimuli. OBJECTIVES: To investigate the expression of Th17- and Treg-specific transcription factors in PBMCs and to evaluate the correlation between these transcription factors and cytokines in vitiligo patients. METHODS: We investigated 30 active NSV patients for Th17- and Treg-specific transcription factors RORγt (retinoic acid-related orphan receptor gamma t), FOXP3 (forkhead/winged helix), HELIOS, EOS, and IRF4 (Interferon Regulatory Factor 4) as well as apoptotic marker NALP1 (NACHT-leucine-rich-repeat protein 1) in PBMCs with RT-qPCR. Immunostaining was done for transcription factors and cytokines on skin sections. RESULTS: The mRNA level of FOXP3 was significantly lower in patients (0.76 fold, P < 0.001), whereas RORγt was slight but not significantly increased (0.76 fold, P = 0.06). Furthermore, NALP1 in lymphocytes was found to be increased in patients (0.69 fold, P < 0.01). The immunostaining results revealed increased expression of RORγ, IL-17A, NALP1, and IL-1ß in vitiligo skin when compared to normal healthy skin. CONCLUSION: Reduced FOXP3/RORγt mRNA ratio suggests thriving of the Th17 cell population in PBMCs of vitiligo patients. Increased NALP1 levels indicate the existence of an apoptotic phenomenon which correlates with the increased expression of IL-1ß in vitiligo pathogenesis.

Cutaneous Squamous Cell Carcinoma in Lupus Vulgaris Caused by Drug Resistant Mycobacterium Tuberculosis.

Tuberculosis (TB) is still a major public health problem in the world, with many factors contributing to this burden, including poor living conditions, overcrowding, poverty, malnutrition, illiteracy, and rapid spread of human immunodeficiency virus infection. Cutaneous tuberculosis is a less common form of extrapulmonary tuberculosis, and in this paucibacillary form the diagnosis depends on histopathology, tuberculin positivity, and response to treatment. The diagnosis is even more difficult in cases with drug resistant Mycobacterium tuberculosis due to lack of awareness and lack of facilities to diagnose drug resistant tuberculosis. In this article, we describe an unusual case of multidrug resistant lupus vulgaris (LV), in a 34-year-old male who responded to anti-tubercular treatment (ATT) initially, but developed recurrent disease which failed to respond to standard four-drug ATT; subsequently, tissue culture showed growth of multidrug resistant M. tuberculosis. Subsequently, he also developed cutaneous squamous cell carcinoma. This article aims to exemplify a grave complication that can occur in long-standing case of LV, the limitations faced by clinicians in developing countries where tuberculosis is endemic, and classical methods of proving drug resistance are generally unavailable or fail.

Donovanosis and squamous cell carcinoma: The relationship conundrum!

Donovanosis is a rare, chronic and indolent sexually transmitted infection caused by Klebsiella granulomatis. The ulcers in donovanosis rarely undergo malignant transformation, which is usually seen in longstanding ulcers. We present a case of a 32-year-old male who presented with a two-month history of rapidly progressive, large, foul-smelling ulcers over the groin, distal penile shaft and scrotum. Crushed tissue smears from ulcers revealed basophilic intracellular and extracellular Donovan bodies. Fine needle aspiration cytology from inguinal lymph nodes and biopsy from the ulcers revealed well-differentiated squamous cell carcinoma. The current case aims to alert clinicians that donovanosis is a rare but possible cause of cutaneous malignancy. Nonetheless, the pathogenesis of malignant transformation in donovanosis needs further research.