Peutz-Jeghers syndrome: confirmation of linkage to chromosome 19p13.3 and identification of a potential second locus, on 19q13.4.

Peutz-Jeghers syndrome (PJS) is an autosomal dominant disease with variable expression and incomplete penetrance, characterized by mucocutaneous pigmentation and hamartomatous polyposis. Patients with PJS have increased frequency of gastrointestinal and extraintestinal malignancies (ovaries, testes, and breast). In order to map the locus (or loci) associated with PJS, we performed a genomewide linkage analysis, using DNA polymorphisms in six families (two from Spain, two from India, one from the United States, and one from Portugal) comprising a total of 93 individuals, including 39 affected and 48 unaffected individuals and 6 individuals with unknown status. During this study, localization of a PJS gene to 19p13.3 (around marker D19S886) had been reported elsewhere. For our families, marker D19S886 yielded a maximum LOD score of 4.74 at a recombination fraction (theta) of .045; multipoint linkage analysis resulted in a LOD score of 7.51 for the interval between D19S886 and 19 pter. However, markers on 19q13.4 also showed significant evidence for linkage. For example, D19S880 resulted in a maximum LOD score of 3.8 at theta = .13. Most of this positive linkage was contributed by a single family, PJS07. These results confirm the mapping of a common PJS locus on 19p13.3 but also suggest the existence, in a minority of families, of a potential second PJS locus, on 19q13.4. Positional cloning and characterization of the PJS mutations will clarify the genetics of the syndrome and the implication of the gene(s) in the predisposition to neoplasias.

Patterns of erythropoiesis and anaemia in leprosy.

A total of 128 leprosy patients were investigated for the morphological type of anaemia, the underlying disturbances in iron metabolism and patterns of erythropoiesis and other cytomorphological changes in the bone marrow. The anaemia was a mild to moderate degree in paucibacillary (PB) leprosy, while in multibacillary (MB) leprosy it was of a severe degree. Iron deficiency was observed in only a few patients. Impaired iron utilization as observed in a anaemia of a chronic disorder was a common finding in MB leprosy (41.7%) and more so in new cases (50%). Megaloblastic erythropoiesis was also more frequent in MB leprosy (45.2%) as compared to PB leprosy (16%), accounting for the severe degree of anaemia in the former type. In 17.2% of the total patients (MB, 21.4%; PB, 9%) both megaloblastic erythropoiesis and features of impaired iron utilization were observed in bone marrow. Disturbances in iron metabolism and erythropoiesis were also observed but to a lesser degree in patients receiving specific antileprosy treatment. Irrespective of the type of disease and duration of treatment, increasing frequency of acid-fast bacillia (AFB) positivity and granulomas was observed in the bone marrow with an increasing severity of anaemia.

Fixed drug eruption of the oral mucous membrane.

Twenty-five patients with lesions of fixed drug eruption on the oral mucous membrane with or without cutaneous lesions were studied. Seventeen patients showed both cutaneous and oral mucous membrane involvement, while eight patients showed involvement of only the oral mucous membrane. Eighteen cases had bullous and erosive type of lesions while seven had lesions which were edematous and hyperpigmented with an erythematous halo. Diagnosis was confirmed in each case by provocation test. Cotrimoxazole, oxyphenbutazone and tetracycline were the most common causative drugs.

Bone marrow cyto-morphological changes in multibacillary leprosy.

Seventy-two cases of multibacillary leprosy were investigated for cytomorphological changes and presence of lepra bacilli in bone marrow. These patients were divided in two groups. Group A (28) comprised of new cases and group B (44) of those receiving treatment. Myeloid hyperplasia was mostly seen in patients of group B who had erythema nodosum leprosum. Megaloblastic change in erythroblasts was seen frequently in both the groups. While average number of plasma cells and macrophages was on the higher side of normal range, detection of large number of plasma cells underlined enhanced humoral response and created diagnostic problem with multiple myeloma. Morphological changes in the macrophages, their collections and epithelioid cell granulomas were observed in bone marrow. Their nature and significance is discussed.

Condyloma acuminatum in an infant.

PIP: A case of a 3-month old female infant with perianal condyloma acuminatum, an extremely rare occurrence, is reported. The child developed perianal warts at 2 months of age. Both parents had no genital or extragenital warts. History of sexual assault was denied. Both parents had negative VDRL tests for syphilis. The infant was treated with 20% podophyllum twice weekly for 3 weeks and the warts resolved in 4 weeks. Genital condyloma acuminatum is usually a sexually transmitted disorder. Only a few isolated cases of venereal warts have been reported in children under 6 months of age.^ieng

Clofazimine induced nail changes.

Two cases of lepromatous leprosy with erythema nodosum leprosum who were on high doses of clofazimine, showed discoloration of nail plate, subungual hyperkeratosis and onycholysis. These nail changes gradually disappeared when the dose of clofazimine was reduced.

Xeroderma pigmentosum--report of four cases.

Four typical cases of Xeroderma Pigmentosum (XP) showing involvement of skin, eyes and oral mucous membrane are described. History of consanguinity was found in two cases. However, family history of XP was seen in only one case. The disease is often fatal before age of 10, but longevity in our patients is interesting.

Leukemoid reaction in erythema nodosum leprosum in a leprosy patient.

A case of lepromatous leprosy with erythema nodosum leprosum (ENL) presenting as a myeloid leukemoid reaction is reported. Very high leucocyte count with immaturity of the cells in myeloid series was present in peripheral blood. High leucocyte alkaline phosphatase score, absence of hepatosplenomegaly and transient nature of leukemoid reaction differentiated it from chronic myeloid leukemia and acute myeloblastic leukemia. The possible mechanisms of leukemoid reaction in ENL are discussed.