Ectodermal dysplasia syndrome with cleft palate, hypodontia, metatarsus adductus and imperforate anus: a new syndrome?

Ectodermal dysplasia constitute a large group of rare, heterogenous [under clinical and genetic aspects], congenital / hereditary disorders characterized by a constellation of findings involving a primary defect [hypoplasia or aplasia] in at least two embryonic ectodermal-derived tissues including the teeth, skin, appendageal structures, hair, nails, nerve cells, eccrine glands, sebaceous glands and parts of the eye [conjunctiva], ear, and certain other structures. More than 192 distinct disorders have been described. The most common Ectodermal dysplasias are X-linked recessive hypohidrotic / anhidrotic type known as Christ-Siemens Touraine syndrome with the gene mapping to Xq12-q13 and hydrotic type known as Clouston's syndrome. Several ED syndromes may manifest in association with midfacial defects, mainly cleft palate and / or lip. Hypodontia of the primary and permanent dentition is the most common oral finding. This study presents four cases of the same family, two suffering from Ectodermal dysplasia along with hypodontia and cleft palate, one of which also presents metatarsus adductus and imperforate anus [proband] and the remaining two out of four with hypodontia in the absence of ectodermal dysplasia, one of which also presents metatarsus adductus [elder sibling] with imperforate anus in the other [youngest sibling]. Oral and Maxillofacial Physicians and Dentists can be the first to diagnose ectodermal dysplasia due to the presence of specific facio-oral features and absence of teeth respectively

Clinical features and hematological investigations pattern in Acute Promyelocytic Leukaemia patients

Acute Promyelocytic Leukemia [AML-M3] patients, though amenable to treatment, present with early and sometimes severe bleeding manifestations. In our setup, for various reasons, patients are diagnosed rather late and therefore these bleeding manifestations are a limiting factor in the early and effective treatment of leukemia in such cases. To look into the clinical, peripheral blood and bone marrow features of AML-M3 patients in our setup. A total of 40 consecutive cases of AML-M3 diagnosed on bone marrow biopsy over a period of 10 years were analyzed for clinico-morphological features. Majority of patients [75%] were <30 years of age. The male: female ratio was 3:2. The mean duration of symptoms was 4.2 weeks [Range 1-10 weeks]. Commonest clinical features were fever, pallor and bleeding manifestations. The spleen and liver were variably enlarged in 25% and 45.5% of cases, respectively. The hemoglobin levels ranged from 3.1 to 12.8 g/dl with a mean of 6.6 g/dl. The WBC count ranged from 0.5 to 142 x 10[9]/l with a mean of 28.3 x 10[9]/l. Platelet counts ranged from 5-150 x 10[9]/l with a mean of 28.8 x 10[9]/l. Morphologically 36 patients had hypergranular and 4 had hypogranular promyelocytic leukemia. The features identified in our study can help in early diagnosis of APL, which is known to be extremely important in effective management of patients