Genetics and Genodermatoses

Harper, John; Trembath, Richard

doi:10.1002/9780470750520.ch12

Cited by 45 publications

(51 citation statements)

References 729 publications

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“…We cannot absolutely rule out the imputability of immunosuppressive drugs in the development of mesenteric fibromatosis and cutaneous haemangiomas. There were no signs of phakomatosis or Gardner's disease [9], The incidence of soft tissue and vascular abnormalities occurring with melorheostosis led us to consider it as a con genital mesenchymal defect occurring early in embryonic life during the development of the vascular and musculo skeletal systems [1,2,4,5]. Embryologically, glomerule constituents derive from mesenchymatous tissue; all the abnormalities observed in our case are consistent with that hypothesis.…”

Section: Discussionsupporting

confidence: 80%

Melorheostosis with Associated Minimal Change Nephrotic Syndrome, Mesenteric Fibromatosis and Capillary Haemangiomas

1994

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Section: Discussionsupporting

confidence: 80%

Melorheostosis with Associated Minimal Change Nephrotic Syndrome, Mesenteric Fibromatosis and Capillary Haemangiomas

1994

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“…Diffuse one is also known as elephantiasis neurofibromatosa [10]. Plexiform neurofibromas involving the genitourinary tract or the lower limb are rare, with bladder, upper urinary tract and genital involvement reported in decreasing order of frequency [11] [12].…”

Section: Discussionmentioning

confidence: 99%

Pregnancy with Elephantiasis Neurofibromatosa—A Rare Presentation

Gupta¹,

Gupta²,

Sapre³

et al. 2014

OALib

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Neurofibromatosis (NF1) is an autosomal dominant disorder primarily affecting the development and growth of nerve cell tissues. We report a rare case of pregnancy with giant plexiform neurofibroma involving the genital tract with adverse perinatal outcome. A 26-year-old female presented at term in labour with NF1 and a huge plexiform neurofibroma arising from sacral region, gluteal region, pelvis and involving left labium majus. She delivered by cesarean section and the baby had congenital NF1. The baby expired on day 4 of life. To the best of our knowledge, this large size neurofibroma involving this site in pregnancy has never been reported in English literature. Both pregnancy and NF1 have reciprocal adverse effects on each other. Congenital neurofibromatosis can be fatal. Hence, all pregnancies associated with NF1 should be considered as high risk and monitored carefully.

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“…Gastrointestinal system involvement may include esophageal webs, hepatosplenomegaly, enteropathy; cirrhosis and genitourinary system involvement like hypo spastic testes, hypospadias, and ureteral stenosis are occasionally found 11 . These fi ndings were absent in our case.…”

Section: Discussionmentioning

confidence: 99%

Dyskeratosis congenita: a rare case report

Roy¹,

Mondal

Paul³

et al. 2013

J. Nepal Paedtr. Soc.

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Dyskeratosis congenita is a rare congenital disorder affecting mainly the integumentary system. It is a progressive disease with involvement of bone marrow. A triad of hyperpigmentation, nail dystrophy and leucoplakia are characteristic of this disease. Key words: Hyperpigmentation, nail dystrophy, leucoplakiaThe Case A seven year old Hindu boy born out of nonconsanguineous marriage presented with recurrent febrile episodes for last two months and nonspecifi c symptoms like pallor, lethargy and poor scholastic performance for more than a month.Examination revealed pallor, few hyperpigmented macules over face ( Fig. 1) & limbs, dystrophic nails in all four limbs. Mucosal leucoplakia was present in tongue only (Fig.2). Buccal and oropharyngeal mucosa were not affected.Finger nails (Fig 3) were involved more than toe nails (Fig.4). All kind of changes like ridging, splitting, progressive atrophy, thinning, pterygium formation, rudimentary nails were present.Patient gives history of excessive lacrimation without any reddening or irritation of eyes. Patient had no respiratory problem. Examination of abdomen revealed no organomegaly. Testes were palpable bilaterally; genitourinary system examination was within normal limits.There was no family history of skin and hematological disorders. InvestigationBlood picture was suggestive of anemia with hemoglobin level of 6.7g/dl; thrombocytopenia, platelet count being 30000 though patient had no spontaneous bleeding from any site. Total leukocyte count was 3400 with 45% polymorphs, 32% lymphocyte, 10% band cell and 12% monocyte and 1% eosinophil. Peripheral blood smear showed anisocytic hypochromic anemia with macro platelets. Reticulocyte count was 1.3%. Direct comb test, Hb electrophoresis, serum iron level, total iron binding capacity were normal. Liver function tests, renal function tests were normal.Patient had an IQ of 60. Chest X ray was normal. X ray spine and hip were done to fi nd out any scoliosis, avascular necrosis of femur. Only mild osteoporotic changes were noticed. USG abdomen revealed no abnormality.Bone marrow aspiration study from iliac crest reveled bone marrow hypoplasia, decreased megakaryocytes and RBC precursor in marrow. Skin biopsy report can be mentioned in detail here.Patient was offered supportive treatment. Patient was also treated with antibiotic. Platelet and packed RBC were transfused when platelet count fell below 20000/cmm and Hb% was 4.2 gm%. Erythropoietin and granulocyte colony stimulating factor injections were also given.

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Genetics and Genodermatoses

Cited by 45 publications

References 729 publications

Melorheostosis with Associated Minimal Change Nephrotic Syndrome, Mesenteric Fibromatosis and Capillary Haemangiomas

Melorheostosis with Associated Minimal Change Nephrotic Syndrome, Mesenteric Fibromatosis and Capillary Haemangiomas

Pregnancy with Elephantiasis Neurofibromatosa—A Rare Presentation

Dyskeratosis congenita: a rare case report

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