Clinical profile and mutation analysis of xeroderma pigmentosum in Indian patients.

Background: Xeroderma pigmentosum (XP) is an autosomal recessive genetic disorder characterized by cutaneous and ocular photosensitivity and an increased risk of developing cutaneous neoplasms. Progressive neurological abnormalities develop in a quarter of XP patients. Aim: To study the clinical profile and perform a mutation analysis in Indian patients with xeroderma pigmentosum. Methods: Ten families with 13 patients with XP were referred to our clinic over 2 years. The genes XPA, XPB and XPC were sequentially analyzed till a pathogenic mutation was identified. Results: Homozygous mutations in the XPA gene were seen in patients with moderate to severe mental retardation (6/10 families) but not in those without neurological features. Two unrelated families with a common family name and belonging to the same community from Maharashtra were found to have an identical mutation in the XPA gene, namely c.335_338delTTATinsCATAAGAAA (p.F112SfsX2). Testing of the XPC gene in two families with four affected children led to the identification of the novel mutations c.1243C>T or p.R415X and c.1677C>A or p.Y559X. In two families, mutations could not be identified in XPA, XPB and XPC genes. Limitation: The sample size is small. Conclusion: Indian patients who have neurological abnormalities associated with XP should be screened for mutations in the XPA gene.

Cockayne syndrome–xeroderma pigmentosum complex with demyelination: A rare association.

Xeroderma pigmentosum–Cockayne syndrome (XP–CS) includes facial freckling and early skin cancers typical of XP and some features typical of CS, such as mental retardation, spasticity, short stature, and hypogonadism. XP–CS does not include skeletal involvement, the facial phenotype of CS, or CNS demyelination and calcifications. We present a rare patient whose genome probably harbored a specific combination of mutations producing a rare double syndrome of XP–CS, with facial phenotype of CS, and CNS demyelination.

Frequency of genodermatoses among Iraqi patients

Genodermatoses are hereditary skin disorders or anomalies which can be grouped into three categories: chromosomal, single gene and multifactorial. Most genodermatoses show single gene or Mendelian inheritance [autosomal dominant, autosomal recessive or X-linked recessive genes]. To asses the frequency of genodermatoses among Iraqi patients in outpatients Dermatology and Venereology comparison with other countries. This case series descriptive epidemiological study included eighty three patients [57males and 26 females] with genodermatoses. They consulted the out patient clinic/ Department of Dermatology and Venereology Baghdad Teaching Hospital from April 2005 through April 2006. Their ages ranged from 2months-60 years [Median 10 years],With various genetic diseases. Full history, dermatological and clinical examinations were done to establish the clinical diagnosis of genodermatoses regarding all demographic points related to these disorders. The frequency of genodermatoses among outpatient attendant in Dermatology and Venereology Department was 837 20000 [0.42%]. This study had shown that the most common genodermatoses were; ichthyosis: 21 [25.3%] patients and epidermolysis bullosa which contain 16 [19.3%] patients when taken together they constituted 37 [44.6%] patients of the total, neurofibromatosis 8 [9.6%], hereditary palmoplantar keratoderma 6 [7.2%], darier's disease 5 [6%] and xeroderma pigmentosa 4 [4.8%]. Positive family history of the same disease was obtained in;8 [38.1%] patients with ichthyosis, 4 [66.6%] in hereditary palmoplantar keratoderma, 2 [12.5%] in epidermolysis bullosa and all patients with Hailey-Hailey disease had positive family history of the same condition. Consanguinity was positive in; 13 [61.9%] patients of ichthyosis, 12 [75%] epidermolysis bullosa, 2 [33.3%] hereditary palmoplantar keratoderma and [100%] patients with xeroderma pigmentosa Genodermatoses are frequently encountered among Iraqi dermatological outpatients and more common in families with positive consanguinity and were comparable to other countries

Xeroderma pigmentoso: um estudo de revisão / Xeroderma pigmentosum: article review

Estudo de revisão sobre xeroderma pigm en toso (XP), realizado por levantamento bibliográfico nas bases dedadas MEDLINE e LILACS. Trata-se de genodermatose rara, ocasionada por defeito no sistema de excisão e reparo de nucleotídeos (NER), que ocasiona dano celular após exposição solar. Caracteriza-se por alterações cutâneas, oftalmológicas, neurológicas, ósseas e grande associação com neoplasias. O diagnóstico é clínico, pode ser confirmado por teste de síntese anormal de DNA. Não há cura e o controle da patologia deve ser feito através de fotoproteção extrema, e em alguns casos pode-se fazer uso de retinóides para preveni-los

Xeroderma pigmentoso: clínica, tratamento e geneterapia / Xeroderma pigmentosum

O xeroderma pigmentoso é uma genodermatose caracterizada por um reparo inadequado de lesões do DNA, ocasionado pela radiação ultravioleta, com conseqüente desenvolvimento de alterações cutâneas, oftálmicas e neurológicas, além de alta incidência de melanomas em crianças. As alterações clínicas são progressivas e aumentam em número em proporção direta à exposição aos raios UV, obrigando os pacientes a estarem totalmente protegidos de qualquer exposição à luz solar. Os autores apresentam o tratamento clínico e as novas e promissoras abordagens terapêuticas e da geneterapia, bem como a classificação clínica dos grupos genéticos.

Xeroderma pigmentosum is a genodermotosis triggered by the inadequate repair of DNA lesions caused by ultraviolet radiation, with the subsequent development of ophthalmic, neurologic, and skin changes, as well as a high incidence of melanoma cases in children. Clinical changes have a progressive pattern, and skin lesions increase in number in the same proportion as UV exposure, forcing patients to protect themselves from any sunlight radiation. Medical treatment, along with the new and promising therapeutic approaches, including gene therapy, are presented in this paper, as well as the clinical classification of the genetic groups.

Spectrum of dermatopathologic lesions associated with HIV/AIDS in India.

Histopatholgoical analysis of cutaneous lesions in 195 patients with HIV/AIDS was carried out between 1989 to 1997 at tertiary level public hospital in Mumbai. 104/195 (53%) cases showed infectious diseases which comprised of molluscum contagiosum (28), condyloma accuminata (18), verruca vulgaris (7), varicella zoster (5), syphilis (14), tuberculosis (13), donovanosis (4), leprosy (2), chancroid (2), bacillary angiomatosis (2), lymphogranuloma venercum (1), Norwegian scabies (3), leishmaniasis (2), demodicidosis (1), crytococcosis (1), tinea versicolor (1). In 12 (6%) cases neoplasms were observed which included squamous cell carcinoma (9), basal cell carcinoma (2) and kaposi's sarcoma (1) case. The miscellaneous conditions were observed in 66(33.5%) cases which comprised of psoriasis (21), papular urticaria (13), Reiter's disease (7) and eosinophilic folliculitis (6). The prevalence of cutaneous tuberculosis observed in this study is high as compared with western literature while the prevalence of kaposis's sarcoma is quite low as compared with reports from Africa, USA and United Kingdom.