Abstract:
:In genetically and phenotypically heterogeneous conditions like ichthyosis, it is clinically not possible to predict mutation in a specific gene. Sequential testing of all the causative genes is time consuming and expensive. In consanguineous families with autosomal recessive genetically heterogeneous disorders, it is possible to narrow down the candidate gene/genes by recognizing the regions of homozygosity by a single nucleotide polymorphism (SNP) array. Here, we present a fatal case of autosomal recessive severe congenital ichthyosis born to a consanguineous couple. Two candidate genes were recognized by SNP array on banked DNA of the subject. Sequencing of these candidate genes in parents found them to be carriers of the same variation, a novel heterozygous deletion of single nucleotide in exon 8 (c. 1067delT) of ALOX12B gene. The present case illustrates the utility of DNA banking, SNP array and testing of parents to arrive at a definitive molecular diagnosis, essential for genetic counseling, and prenatal testing.
journal_name
Indian J Dermatoljournal_title
Indian journal of dermatologyauthors
Salian S,Gupta A,Shukla A,Girisha KMdoi
10.4103/0019-5154.174134subject
Has Abstractpub_date
2016-01-01 00:00:00pages
122issue
1eissn
0019-5154issn
1998-3611pii
IJD-61-122bjournal_volume
61pub_type
杂志文章abstract::With the introduction of topical corticosteroids, a milestone has been achieved in dermatologic therapy; owing to its potent anti-inflammatory and ant proliferative effects, it became possible to treat some hitherto resistant dermatoses. But this magic drug can cause enough mischief if used inappropriately. Children a...
journal_title:Indian journal of dermatology
pub_type: 杂志文章
doi:10.4103/0019-5154.139874
更新日期:2014-09-01 00:00:00
abstract:BACKGROUND:Sertaconazole is a new, broad spectrum, fungicidal and fungistatic imidazole with added antipruritic and anti-inflammatory activity that would provide greater symptomatic relief and hence would be beneficial in improving the quality of life for the patient with dermatophytoses. AIMS AND OBJECTIVES:To compar...
journal_title:Indian journal of dermatology
pub_type: 杂志文章
doi:10.4103/0019-5154.105284
更新日期:2013-01-01 00:00:00
abstract:BACKGROUND:Pilomatrixoma (PMX) is a benign, quite uncommon, skin neoplasm, which is frequently misdiagnosed by clinicians. AIM:We have analyzed 25 PMX to determine the agreement between clinical diagnosis, preoperative FNA characteristics, and corresponding histopathological specimens; moreover, reliable cytologic cri...
journal_title:Indian journal of dermatology
pub_type: 杂志文章
doi:10.4103/0019-5154.94295
更新日期:2012-03-01 00:00:00
abstract::Seborrheic keratosis of the penis is a rare entity. It has been mistaken as genital warts and differentiation is only made on histopathology. We are reporting a case presenting as multiple giant polypoidal lesions on the penile skin for the last 20 years. Seborrheic keratosis should be considered in the differential d...
journal_title:Indian journal of dermatology
pub_type: 杂志文章
doi:10.4103/0019-5154.39743
更新日期:2008-01-01 00:00:00
abstract::A Case of faun-tail nevus is presented. A long tuft of hair over the back in the lumbar region hid a bony defect of the fifth lumbar spine. No neurological symptoms were encountered. ...
journal_title:Indian journal of dermatology
pub_type: 杂志文章
doi:
更新日期:1989-09-01 00:00:00
abstract::Palmo-plantar keratodermas (PPKD) are a diverse group of acquired and hereditary disorders, characterized by excessive thickening of the skin of palms and soles. Here, we report a case of Type I or Buschke-Fischer-Brauer variant of punctate palmo-plantar keratoderma, in a 66-year-old gentleman. The association of our ...
journal_title:Indian journal of dermatology
pub_type: 杂志文章
doi:10.4103/0019-5154.156452
更新日期:2015-05-01 00:00:00
abstract::Dermatitis neglecta is a condition that results from inadequate frictional cleansing leading to accumulation of corneocytes, sebum and sweat ultimately resulting in hyper-pigmented patch or verrucous plaque. Recognizing this condition avoids unnecessary, aggressive diagnostic and therapeutic procedures. Here we report...
journal_title:Indian journal of dermatology
pub_type: 杂志文章
doi:10.4103/0019-5154.152525
更新日期:2015-03-01 00:00:00
abstract::Mal de meleda (MdM), a rare autosomal recessive genodermatosis is characterized by erythema and hyperkeratosis of the palms and soles with a sharp demarcation and that progress with age (progrediens) and extend to the dorsal aspects of the hands and feet (transgrediens). It has been associated with various conditions ...
journal_title:Indian journal of dermatology
pub_type: 杂志文章
doi:10.4103/0019-5154.159655
更新日期:2015-09-01 00:00:00
abstract:Background:In our hospital setup located in the tropical zone, during each summer, we frequently come across a unique eczematous dermatosis among elderly females that typically occur in summer. Aims and Objectives:We carried out this study with the objective of studying the demographic and clinical features of this de...
journal_title:Indian journal of dermatology
pub_type: 杂志文章
doi:10.4103/ijd.IJD_668_16
更新日期:2019-03-01 00:00:00
abstract::A family presented to our dermatology clinic with a complaint of white nails. Physical examination revealed clinical feature of leukonychia totalis and the presence of sensorineural hearing loss, palmo plantar keratoderma and knuckle pads (four essential criteria for the diagnosis of Bart Pumphrey syndrome).Three cons...
journal_title:Indian journal of dermatology
pub_type: 杂志文章
doi:10.4103/0019-5154.60365
更新日期:2010-01-01 00:00:00
abstract::Artificially intelligent computer systems are used extensively in medical sciences. Common applications include diagnosing patients, end-to-end drug discovery and development, improving communication between physician and patient, transcribing medical documents, such as prescriptions, and remotely treating patients. W...
journal_title:Indian journal of dermatology
pub_type: 杂志文章
doi:10.4103/ijd.IJD_421_20
更新日期:2020-09-01 00:00:00
abstract:BACKGROUND:The evaluation for skin disorders forms an important component of primary health care practice for all including children. The prevalence of certain skin diseases in children can reflect status of health, hygiene, and personal cleanliness of a community. AIMS:This study was planned to evaluate the magnitude...
journal_title:Indian journal of dermatology
pub_type: 杂志文章
doi:10.4103/0019-5154.97665
更新日期:2012-07-01 00:00:00
abstract::The incidence of nonmelanoma skin cancer (NMSC) continues to rise, partly because of aging, the frequency of early childhood sunburns, and sporadic extreme recreational sun exposure. A nonsurgical approach to selected cutaneous malignancy could possibly reduce the cost as well as morbidity of surgical treatment for NM...
journal_title:Indian journal of dermatology
pub_type: 杂志文章,评审
doi:10.4103/0019-5154.143503
更新日期:2014-11-01 00:00:00
abstract::Subcutaneous fat necrosis of infancy is a rare disorder of subcutaneous adipose tissue that is sometimes complicated by hypercalcemia. Complete resolution is common. From the pediatrician's point of view, the disease is a rare but important cause of inconsolable cry in a newborn. ...
journal_title:Indian journal of dermatology
pub_type: 杂志文章
doi:10.4103/0019-5154.113983
更新日期:2013-07-01 00:00:00
abstract:BACKGROUND:Oxidative stress is considered as an initial pathogenic event in melanocyte destruction. These free radicals are scavenged by antioxidants, whose sum of activity in serum is measured by total antioxidant status (TAS). In addition, homocysteine (Hcy) may mediate melanocyte destruction via increased oxidative ...
journal_title:Indian journal of dermatology
pub_type: 杂志文章
doi:10.4103/0019-5154.177764
更新日期:2016-03-01 00:00:00
abstract::Progressive nodular histiocytosis (PNH) is a rare normolipemic macrophage disorder and belongs to a subgroup of non-Langerhans cell histiocytosis (LCHs) which is characterized by a progressive course with no sign of spontaneous resolution but without systemic involvement. We report a 30-year-old gentleman who presente...
journal_title:Indian journal of dermatology
pub_type: 杂志文章
doi:10.4103/0019-5154.160492
更新日期:2015-07-01 00:00:00
abstract::A 55-year-old woman presented with a 5-year history of livedo racemosa on her limbs. Histology showed vasculitis of medium-sized arteries with a circumferential, hyalinised, intraluminal fibrin ring. Her laboratory investigations did not indicate any underlying systemic disease. The findings were consistent with lymph...
journal_title:Indian journal of dermatology
pub_type: 杂志文章
doi:10.4103/0019-5154.139907
更新日期:2014-09-01 00:00:00
abstract::Hidradenocarcinomas are very rare malignant sweat gland tumors that possess an infiltrative and/or low metastatic potential. Here we describe an interesting case of hidradenoma on the fronto-parietal region of the scalp of an elderly female, part of which had developed carcinomatous changes, infiltrating up to the per...
journal_title:Indian journal of dermatology
pub_type: 杂志文章
doi:10.4103/0019-5154.160527
更新日期:2015-07-01 00:00:00
abstract:BACKGROUND:Basement membrane (BM) is a thick sheet of extracellular matrix molecules, upon which epithelial cells attach. Various immunohistochemical studies in the past have been carried out but these advanced staining techniques are expensive and not feasible in routine laboratories. Although hematoxylin and eosin (H...
journal_title:Indian journal of dermatology
pub_type: 杂志文章
doi:10.4103/0019-5154.159626
更新日期:2015-09-01 00:00:00
abstract::Pharmacovigilance is defined as the science of detection, assessment, and prevention of adverse drug reactions in humans. Under-reporting of drug reactions is the major problem and has various reasons. The WHO has initiated the program of reporting all adverse drug reactions now co-ordinated by the Uppsala Monitoring ...
journal_title:Indian journal of dermatology
pub_type: 杂志文章
doi:10.4103/0019-5154.87121
更新日期:2011-09-01 00:00:00
abstract:INTRODUCTION:Hand, foot, and mouth disease (HFMD), an enteroviral disease has emerged as a major emerging infection in India. This is caused most commonly by enterovirus 71 (EV71) and coxsackievirus A16 (CVA16) but can also be due to CVA4-10, CVA24, CVB2-5, and echovirus 18 (Echo18). Virological analysis of the cases o...
journal_title:Indian journal of dermatology
pub_type: 杂志文章
doi:10.4103/ijd.IJD_381_17
更新日期:2017-09-01 00:00:00
abstract::"Wolf's isotopic response" refers to the occurrence of a new dermatosis at the site of previously healed dermatosis. A number of factors including viral, neural, vascular, and immunologic factors have been implicated in the causation of this peculiar response but none has been proven conclusively. Here, we report a ca...
journal_title:Indian journal of dermatology
pub_type: 杂志文章
doi:10.4103/0019-5154.131401
更新日期:2014-05-01 00:00:00
abstract:BACKGROUND:Pemphigus vulgaris (PV), an autoimmune disorder characterized by blistering skin/mucus membrane lesions, is mediated by desmoglein-3 autoantibodies. We carried out a prospective clinical trial of hematopoietic stem cell transplantation (HSCT) in thymus, bone marrow (BM) and periphery to reconstitute central ...
journal_title:Indian journal of dermatology
pub_type: 杂志文章
doi:10.4103/0019-5154.92667
更新日期:2012-01-01 00:00:00
abstract:BACKGROUND:Palmoplantar psoriasis is a frequently encountered variant of psoriasis. It is difficult to treat and even more difficult to maintain remission as it is exacerbated by friction and trauma of the patient's daily activities. Existing topical modalities of treatment are often inadequate and show unpredictable r...
journal_title:Indian journal of dermatology
pub_type: 杂志文章
doi:10.4103/0019-5154.77550
更新日期:2011-01-01 00:00:00
abstract::Cutaneous pseudolymphomas are benign lymphoproliferative processes mimicking lymphomas clinically and histologically. One of the precipitating factors for pseudolymphoma is drugs like anticonvulsants, antidepressants and angiotensin-converting enzyme inhibitors. According to existing literature phenytoin-induced cutan...
journal_title:Indian journal of dermatology
pub_type: 杂志文章
doi:10.4103/0019-5154.164437
更新日期:2015-09-01 00:00:00
abstract::Primary mucinous adenocarcinoma is a rare adnexal neoplasm of eccrine gland. Fewer than 200 cases are reported in literature. Clinically, it can be mistaken as a benign lesion. The primary challenge in these lesions is to differentiate these rare primary lesions from more frequent mucinous secondary deposits. Morpholo...
journal_title:Indian journal of dermatology
pub_type: 杂志文章
doi:10.4103/ijd.IJD_619_16
更新日期:2018-03-01 00:00:00
abstract::Tufted angioma (TA) is a rare benign vascular neoplasm, localized to the skin and subcutaneous tissues, occurring primarily on the trunk and extremities of children. The lesions are usually asymptomatic but, rarely, paroxysmal painful episodes may be associated. The occurrence of eruptive TA is still rarer and had bee...
journal_title:Indian journal of dermatology
pub_type: 杂志文章
doi:10.4103/0019-5154.84741
更新日期:2011-07-01 00:00:00
abstract:Background:Fungi as a source of allergen are still largely neglected in basic research as well as in clinical practice. This study aimed to highlight the impact of fungal allergens in a group of patients suffering from atopic dermatitis (AD). Aims and Objectives:The evaluation of the sensitization to fungi in AD patie...
journal_title:Indian journal of dermatology
pub_type: 杂志文章
doi:10.4103/ijd.IJD_493_17
更新日期:2018-09-01 00:00:00
abstract::Tuberculosis is probably as old as the human race itself. Cutaneous tuberculosis constitutes a very small proportion of extra pulmonary tuberculosis. Extensive, multifocal involvement of cutaneous tuberculosis is a very rare manifestation. We report one such case of extensive, multifocal tuberculosis verrucosa cutis i...
journal_title:Indian journal of dermatology
pub_type: 杂志文章
doi:10.4103/0019-5154.135532
更新日期:2014-07-01 00:00:00
abstract::Chicken pox is a common viral infection presenting with fever and discrete vesicular lesions. This infection can be widely detected in developing countries, especially for those tropical countries. The pregnant can get chicken pox, and this becomes an important obstetrical concern. In this specific paper, the author h...
journal_title:Indian journal of dermatology
pub_type: 杂志文章
doi:10.4103/0019-5154.74527
更新日期:2010-10-01 00:00:00