Porphyrias: Uncommon disorders masquerading as common childhood diseases.

Porphyrias are a rare group of inborn errors of metabolism due to defects in the heme biosynthetic pathway. The biochemical hallmark is the overproduction of porphyrin precursors and porphyrin species. Afflicted patients present with a myriad of symptoms causing a diagnostic odyssey. Symptoms often overlap with those of common diseases and may be overlooked unless there is heightened clinical suspicion. We are reporting clinical features and diagnostic challenges in four pediatric patients having variegate porphyria, congenital erythropoietic porphyria, acute intermittent porphyria, and erythropoietic protoporphyria (EPP), who presented with diverse multisystem manifestations. This case series illustrates a logical analysis of symptoms and judicious selection of investigations and the role of genotyping in successfully diagnosing porphyrias.

Regression of lipoedematous scalp following cryolipolysis using an icepack, with a novel dermoscopic feature of yellow background.

The novel use of cryolipolysis via icepacks, a readily available and inexpensive device, is described for lipoedematous scalp with subjective and objective relief. This is a simple solution to a troublesome, intractable condition and may readily be utilized for patient benefit. Juxtaposing pre and post clinical images.

Simplifying assessment of dimensions of oral lesions using a syringe and 'impression planimetry' with printer paper.

Two novel methods of measuring the dimensions of oral lesions are described, which would be of help in deciding relative efficacies of different therapeutic agents when used in clinical trials after larger studies quantitatively assessed for inter/intraobserver variability.

Syringocystadenoma papilliferum of the cervix presenting as vulvar growth in an adolescent girl.

Syringocystadenoma papilliferum (SCP) is a rare, benign, adnexal tumour of apocrine or eccrine differentiation. It is commonly located on head and neck region. We report the case of an 18-year-old woman who presented with a vulvar lobulated growth that was found to arise from the posterior lip of cervix. Histopathological examination revealed the diagnosis of SCP. To our knowledge, SCP arising from the cervix has never been reported previously in the literature, thus we believe this to be the first case of SCP arising from the posterior lip of the cervix.

The angiotensin-converting enzyme gene insertion/deletion polymorphism in Indian patients with vitiligo: a case-control study and meta-analysis.

BACKGROUND: Vitiligo is a common, acquired, idiopathic depigmenting skin disorder. Although the exact pathogenesis remains unknown, genetic susceptibility and autoimmune responses play a role in vitiligo development. Previous studies have suggested that the D allele of the insertion/deletion (I/D) polymorphism of the angiotensin-converting enzyme (ACE) gene is associated with vitiligo in Indians and Koreans. Furthermore, significantly higher serum ACE levels have been demonstrated in patients with some autoimmune and autoinflammatory disorders. OBJECTIVES: The objectives were to investigate any association between the ACE I/D polymorphism and vitiligo susceptibility in an Indian population, and to compare serum ACE levels in patients with vitiligo and healthy subjects. METHODS: The ACE I/D genotypes of 79 patients with vitiligo and 100 normal individuals were determined by polymerase chain reaction amplification. A meta-analysis was done to compare the distribution of the ACE I/D alleles and genotypes in the current and three previous studies. Serum ACE levels were evaluated by enzyme-linked immunosorbent assay. RESULTS: A significant increase in the frequency of the ACE I/D D allele was evident in patients with vitiligo in both the case-control study [P=0·005; odds ratio (OR) 1·87; 95% confidence intervals (CI) 1·22-2·85] and the meta-analysis (P=0·044; OR 1·44; 95% CI 1·01-2·06). Serum ACE levels were significantly increased in patients with vitiligo compared with healthy subjects (P<0·0001). CONCLUSIONS: In agreement with earlier reports, the ACE I/D D allele is associated with vitiligo susceptibility in the Indian population. The significantly elevated serum ACE levels in our cohort of patients with vitiligo concur with those previously found in patients with some other autoimmune diseases.

Vitiligo patients from India (Mumbai) show differences in clinical, demographic and autoantibody profiles compared to patients in western countries.

BACKGROUND: Vitiligo is a common, idiopathic skin disorder characterized by depigmented skin due to the loss of cutaneous melanocytes. Several studies have reported the clinical and demographic characteristics of Indian vitiligo patients, however, none has characterized their antibody profiles. OBJECTIVE: To establish the clinical, demographic and serological details of a population of vitiligo patients from Mumbai, India, and to evaluate the data for any associations between clinical presentations and the occurrence of antibody responses. METHODS: Vitiligo patients (n = 79) were recruited to the study and their clinical and demographic details recorded. Serum antibodies, including those against melanocyte-specific antigens, thyroid antigens and keratinocytes, were evaluated. RESULTS: The prevalence of vitiligo was independent of sex, and non-segmental vitiligo was the most common form of the disease occurring in 65% of the patients. Patients with segmental vitiligo (mean age = 14.4 ± 4.6 years) presented at a younger age than those with non-segmental disease (mean age = 32.5 ± 17.8 years). Personal and family histories of other autoimmune diseases occurred in 3% and 8% of patients, respectively. Antibodies were detected against tyrosinase, tyrosine hydroxylase, thyroid peroxidase, thyroglobulin and keratinocytes at frequencies of 11%, 22%, 18%, 24% and 27%, respectively. Overall, antibodies were more common in patients with non-segmental vitiligo (50-67%) than in those with segmental disease (0-17%), and were detected more frequently in patients with shorter disease durations (<10 years). CONCLUSION: Our study provides novel information relative to the clinical details, demographic features and serological parameters of a population of vitiligo patients from Mumbai, India. Important distinctions from similar surveys conducted in European patients were evident such as an infrequency of family history, a low prevalence of clinical autoimmune disease, and an absence of particular antibody specificities. These differences may have a bearing on the pathogenesis and course of the disease in Indian patients.

A comparative evaluation of different treatment modalities for parasymphysis fractures: a pilot study.

Maxime Champy advised the use of two miniplates for parasymphysis fractures because of the high torsional forces in the anterior region of the mandible. According to him there is no need for intraoperative or postoperative intermaxillary fixation, but most surgeons use arch bars for intraoperative or postoperative intermaxillary fixation. This study evaluated the role of the lower arch bar as a tension band eliminating the need for an upper miniplate (tension band plate) in cases of parasymphysis fractures. 3 groups underwent treatment. In the first group, two titanium miniplates were placed across the fracture site along with Erich's arch bar for 6 weeks. In the second group, two titanium miniplates were used for osteosynthesis without Erich's arch bar. In the third group, one titanium miniplate was placed along with Erich's arch bar for 6 weeks. The results of third group were statistically non-significant compared with those of the first and second groups.

A novel versatile technique for achieving buccolingual intermaxillary fixation.

Intermaxillary fixation is commonly employed in maxillofacial trauma to utilise functional occlusion as a tool to perform open reduction and internal fixation of maxillary and mandibular fractures. This new technique seems to be a simple, efficient and rapid modality to achieve intermaxillary fixation.

Comparative evaluation of dento-alveolar distraction and periodontal distraction assisted rapid retraction of the maxillary canine: a pilot study.

Distraction osteogenesis is a biological process of new bone formation between the surfaces of the bone segments that are gradually separated by incremental traction. A recent innovative use of distraction osteogenesis in orthodontic tooth movement is to move individual tooth segments rapidly thus reducing orthodontic treatment time. Six patients, comprising two groups, were compared using two different surgical techniques: dento-alveolar distraction and periodontal distraction to bring about rapid canine retraction using an indigenously designed intra-oral distractor. The aim was to assess and evaluate the best approach to reduce the overall orthodontic treatment time by means of distraction osteogenesis. The patients were assessed at regular intervals with intra-oral periapical radiographs and lateral cephalograms for gauging the time required for retraction, canine tipping, anchorage loss and external root resorption. Dento-alveolar distraction was superior to periodontal distraction in all areas of assessment.

Congenital unilateral maxillo-mandibulo-zygomatic fusion (syngnathia): a case report in an 8-year-old boy.

Congenital causes of limited mouth opening involving fusion of maxilla and mandible (syngnathia) are rare anomalies that often present as part of syndromes such as Van der Woude and popliteal pterygium syndrome. Surgical management involves division of the bony fusion or breakdown of the adhesions in the first few days of life. The authors present a case of maxillo-mandibulo-zygomatic fusion (syngnathia) in an 8-year-old boy, who underwent surgical intervention to achieve adequate jaw function.

Keratotic vascular papules over the feet: a case of Waldenström's macroglobulinaemia-associated cutaneous macroglobulinosis.

Waldenström's macroglobulinaemia (WM) is a plasma-cell dyscrasia characterized by the monoclonal proliferation of lymphoplasmacytes. A 48-year-old man presented with a 4-year history of multiple painful, hyperkeratotic deep-seated papules over the pressure areas of both soles. He had a 1-year history of Raynaud's phenomenon, intermittent epistaxis, recurrent vomiting, tingling and numbness, and visual disturbances. Histological examination of a skin biopsy found amyloid-like deposits in the upper and mid dermis involving dermal blood vessels, but apart from periodic-acid-Schiff, various stains gave negative results for amyloid. Direct immunofluorescence was positive for IgM antibody. Hence, a diagnosis of WM with cutaneous macroglobulinosis was made. Immunoelectrophoresis found monoclonal IgM kappa antibody, and bone-marrow examination revealed a lymphoplasmacytoid malignancy. The patient's systemic systems were attributed to hyperviscosity syndrome associated with WM and the cutaneous papules were identified as deposits of excess IgM antibodies. The patient received five cycles of chemotherapy, resulting in nearly complete resolution of the skin lesions and systemic symptoms.

Kaposi's sarcoma: a presenting manifestation of HIV infection in an Indian.

Kaposi's sarcoma (KS) is a multifocal neoplastic proliferation of endothelial cells predominantly involving skin and other organs. HIV-associated Kaposi's sarcoma has been rarely reported from India. A 38-year-old male presented with persistent swelling on the left lower limb for one year along with multiple erythematous to dusky papules and plaques of one and half months duration and swelling and black discoloration of right lower limb for one month. Cutaneous examination revealed numerous skin colored and erythematous papules and plaques distributed on the left lower limb on the anteromedial aspect and verrucous plaque on the left sole. Multiple erythematous, grouped papules were present over the soft palate. Skin biopsy showed numerous slit like spaces dissecting into the collagen of the upper and mid-dermis along with 'promontory sign' suggestive of Kaposi's sarcoma. Patient was found to be HIV-positive by ELISA test.

Adult cutaneous myofibroma.

A 63-year-old male presented with an asymptomatic, slow-growing swelling on the right lower limb for the past one and half years. The histopathology revealed a lobular neoplasm with a biphasic pattern of spindle shaped cells and hemangiopericytoma like areas at the periphery of the lobule. The diagnosis of adult cutaneous myofibroma was made. This case highlights the importance of histopathology in reaching a definitive diagnosis.

An outbreak of methicillin-resistant Staphylococcus aureus (MRSA) infection in dermatology indoor patients.

BACKGROUND: Methicillin-resistant Staphylococcus aureus (MRSA) is a major nosocomial pathogen. Indiscriminate and increased use of systemic antibiotics has led to the emergence of MRSA. Infected or colonized ward patients are the main reservoir of infection. Once colonized, the risk of subsequent local and systemic infections is high, especially in the elderly, and in debilitated and immunosuppressed patients. METHODS: We report an outbreak of MRSA in the dermatology ward of a tertiary care hospital and describe measures taken to control it. RESULTS: Ten patients were found to be MRSA positive over a span of three months while screening swabs from wet lesions in indoor patients. On the basis of risk assessment, they were treated with appropriate systemic and topical therapy. One patient died while the remaining nine patients showed a good response to therapy. All the MRSA isolates were found to be sensitive to vancomycin, teicoplanin and linezolid. CONCLUSION: This is the first case report of MRSA infection in dermatology indoor patients in India.