Inherited thrombophilia profile in patients with recurrent miscarriages: Experience from a tertiary care center in north India

The cause of recurrent miscarriage (RM) remains unexplained in approximately 30% to 50% cases. The association of inherited thrombotic factors and RM patients has not been documented from the northern part of India. A total of 40 patients had been investigated for inherited thrombophilia workup (protein C, protein S [PS], antithrombin III, and factor V Leiden [FVL] mutation) over a period of 10 years (2005 to 2014). RM patients were divided in to three groups. Group I (only 1st trimester loss), group II (only 2nd and 3rd trimester), and group III (mixed). Each group comprised of the following numbers of patients respectively: I, 24; II, 2; III, 14. Heterozygous FVL mutation was found in 10% (4/40) cases. PS deficiency was detected in 2.7% (1/37) cases. In the present study FVL and PS were seems to be associated with a subset of patients however further studies with larger numbers of patients are recommended for better evaluation.

Dyschromatosis universalis hereditaria: Infrequent genodermatoses in India.

Dyschromatosis universalis hereditaria (DUH) is a rare genodermatosis reported initially and mainly in Japan. However, subsequent cases have been reported from other countries. We report a case of DUH in a south Indian woman with a positive family history with cosmetic disfigurement and severe psychological impairment.

Sternal tuberculous osteomyelitis presenting as a pulsatile swelling.

Primary sternal tuberculous osteomyelitis is a rare form of tuberculous osteomyelitis. We report a case of a young adult with primary tuberculous osteomyelitis of the sternum who presented with a pulsatile anterior chest wall swelling. Computed Tomography of the thorax revealed a hypodense lytic lesion in the body of the sternum that had eroded into the anterior mediastinum where it lay in close contact with the right ventricle, resulting in the clinically evident transmitted pulsations. Among the protean manifestations of tuberculosis this case illustrates a unique presentation as a pulsatile chest wall mass.

Forehead plaque: a cutaneous marker of CNS involvement in tuberous sclerosis.

BACKGROUND: Tuberous sclerosis complex (TSC) is a neurocutaneous genodermatosis characterized by hamartoma formation in multiple organs. There are no definite cutaneous markers suggestive of central nervous system (CNS) involvement in TSC. Aims: To study association of forehead plaque seen in tuberous sclerosis patients and CNS involvement in TSC. METHODS: This is a retrospective study of 15 cases of tuberous sclerosis in varying age groups - from 1.5 to 50 years. All the cases were thoroughly evaluated with detailed history; clinical examination; and relevant investigations like X-rays of chest, skull, hands and feet; ultrasound abdomen and computed tomography of brain. RESULTS: Out of the 15 cases, CNS involvement was seen in 8 cases. Seizures were present in 8 cases (53.33%) and mental retardation was seen in 6 cases (40%). Computerized tomography of brain revealed subependymal nodules (SENs) in eight cases (53.33%). In addition to SENs, subependymal giant cell astrocytomas and cortical tubers were seen in 2 cases each. Out of these 8 cases having CNS involvement, in 7 cases forehead plaque was observed. In 1 case, no forehead plaque was observed (X 2 = 1.07, P < 0.05). CONCLUSION: This study shows that there is a statistically significant relationship between the presence of a forehead plaque and CNS involvement in TSC. Therefore, forehead plaque may be considered as a novel cutaneous marker to know the CNS involvement in TSC at an early stage.

Vitiligo: a part of a systemic autoimmune process.

BACKGROUND: Recent clinical and animal experimental studies postulate that the pathogenetic mechanisms of vitiligo could be of systemic origin as vitiligo is associated with ocular and auditory abnormalities as well as other autoimmune disorders.Hence, we studied genetic factors, systemic associations, ocular and auditory abnormalities of vitiligo. METHODS: The study group included 150 new cases of various types of vitiligo. One hundred age- and sex-matched nonvitiligo cases were included as controls in the study. A complete family history was taken for all patients. Examination was carried out taking note of the type of vitiligo and approximate percentage of body surface involved. All relevant laboratory investigations, a thorough audiological examination including pure tone audiometry and a complete ophthalmologic examination were carried out in all patients and controls. Statistical analysis was done using the Chi square test. RESULTS: Fifty-four vitiligo patients (36%) had a family history of vitiligo. Anemia was present in 30 (20%) vitiligo patients but only in five (5%) controls, a difference that was statistically significant (c2 = 15.8, P < 0.001). Diabetes mellitus was present in 24 (16%) vitiligo patients and only 2 (2%) of controls (Chi square, c2 = 12.4, P < 0.001). Hypothyroidism and alopecia areata were present in 18 (12%) and 11 (7.4%) vitiligo patients respectively and none of the controls. Hypoacusis was seen in 30 (20%) vitiligo patients and two (2%) controls (c2 = 8.19, P < 0.005). Twenty-four vitiligo patients (16%) and five controls (5%) had specific ocular abnormalities like uveitis, iris and retinal pigmentary abnormalities (c2 = 7.39, P < 0.001). CONCLUSION: This study demonstrates statistically significant clinical evidence confirming that vitiligo is a part of systemic autoimmune process.

An outbreak of cutaneous anthrax in a non-endemic district--Visakhapatnam in Andhra Pradesh.

BACKGROUND: Anthrax is a disease of herbivorous animals, and humans incidentally acquire the disease by handling infected dead animals and their products. Sporadic cases of human anthrax have been reported from Southern India. METHODS: Five tribal men presented with painless ulcers with vesiculation and edema of the surrounding skin on the extremities without any constitutional symptoms. There was a history of slaughtering and consumption of a dead goat ten days prior to the development of skin lesions. Clinically cutaneous anthrax was suspected and smears, swabs and punch biopsies were taken for culture and identification by polymerase chain reaction (PCR). All the cases were treated with intravenous followed by oral antibiotics. Appropriate health authorities were alerted and proper control measures were employed. RESULTS: Smears from the cutaneous lesions of all five patients were positive for Bacillus anthracis and this was confirmed by a positive culture and PCR of the smears in four of the five cases. All the cases responded to antibiotics. CONCLUSION: We report five cases of cutaneous anthrax in a non-endemic district, Visakhapatnam, Andhra Pradesh, for the first time.