Hypohidrotic ectodermal dysplasia with unilateral empyema

Abstract

Ectodermal Dysplasia (ED) is a group of rare disorders that affects various tissues of ectodermal origin. The commonest being hypohidrotic (anhydrotic) ED. We report a case of 2 year old female child, brought with complaints of cough, cold and fever since 1 week and breathlessness that preceeded 3 days before admission. There was h/o heat intolerance, and hypohydrosis. The other two siblings were unaffected. Examination, revealed a febrile, tachypnoeic, tachycardic child, with sparse hair and eyebrows, coarse dry paper-like skin, and periorbital hyperpigmentation. Dentition included 4 peg like incisors. Respiratory examination revealed decreased air entry on the left side and crepitations over the right side. Chest x-ray and ultrasonography were consistent with left sided pleural effusion. Pathological and biochemical examination of pleural fluid were suggestive of empyema. Other systems were normal. Treatment included intercostal drainage and antibiotics for a period of four weeks in a cool environment. Symptoms resolved without sequelae and tube was removed on 5 th day of stay. Skin biopsy corroborated the diagnosis of ED. Immunoglobin profile was normal. Mutational analysis could not be done. This case is being reported due to a rare occurrence of Hypohidrotic ED and its much rarer association with underlying empyema.