الملخص
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.
الموضوعات
Adolescent , Adult , Brain Diseases/pathology , Child , Child, Preschool , Female , Fibrosis , Forehead/pathology , Humans , Infant , Male , Middle Aged , Retrospective Studies , Skin/pathology , Tuberous Sclerosis/pathologyالملخص
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.