Clinical and allelic heterogeneity in dystrophic epidermolysis bullosa- lessons from an Indian cohort.

Background: Dystrophic epidermolysis bullosa (DEB) is due to variation in the COL7A1 gene. The clinical phenotype and severity depends on the type of variation and domain of the affected protein.

Objectives: To characterize the spectrum of COL7A1 variations in a cohort of DEB patients from India, to correlate these findings with clinical phenotypes and to establish a genotype-phenotype correlation.

Clinical heterogeneity in epidermolysis bullosa simplex with plectin (PLEC) mutations-A study of six unrelated families from India.

Epidermolysis bullosa simplex (EBS) with plectin mutations is a very rare subtype of EB usually associated with pyloric atresia (PA) or muscular dystrophy (MD). We report six unrelated children between ages 4 and 14 years from India with varied clinical manifestations. Only one had PA, and none has developed MD to date.

Functional Analysis of a Novel Connexin30 Mutation in a Large Family with Hearing Loss, Pesplanus, Ichthyosis, Cutaneous Nodules, and Keratoderma.

Mutations in the gap-junction gene Cx30 (Connexin30, GJB6) are a known cause of hearing loss. Here, we report our findings on a large multigeneration family in which severe to profound sensorineural hearing impairment is associated with a variety of skin-related anomalies. Genome-wide analysis of the family showed that the locus maps to chromosome region 13ptel-q12.

Vesiculobullous Disorders in Children.

Objective: To study the frequency and clinical pattern of vesiculobullous disorders in children.

Methods: A retrospective chart review of all children diagnosed with vesiculobullous disorders over a period of 36 mo from January 2011 through December 2013 was performed. All children 18 y and below were included in the study.

Focal dermal hypoplasia: a rare case report.

Focal dermal hypoplasia (Goltz syndrome) is a rare genetic multisystem disorder primarily involving the skin, skeletal system, eyes, and face. We report the case of an eight-month-old female child who presented with multiple hypopigmented atrophic macules along the lines of blaschko, skeletal anomalies, umbilical hernia, developmental delay, hypoplastic nails, syndactyly, and lobster claw deformity characteristic of Goltz syndrome.

Pediatric dermatology inpatient consultations: a retrospective study.

Objective: To describe the profile of inpatient consultations seen in department of pediatric dermatology at a tertiary care children's hospital.

Methods: The authors performed a retrospective review of all pediatric dermatology inpatient consultation data from medical record section over a period of 42 mo from January 2010 through June 2013. All children 18 y and below were included in the study.

Marie-unna hereditary hypotrichosis.

Marie-Unna type of hereditary hypotrichosis is a rare autosomal dominant disorder that has a distinctive type of hair loss pattern that varies with child's age. It is characterized by sparse or absent hair at birth with regrowth of coarse, wiry twisted hair from childhood, followed by progressive loss on approaching puberty. We report a 12-year-old male child with characteristic clinical features suggestive of hereditary hypotrichosis of Marie-Unna type.

Sjögren-Larsson syndrome: A study of clinical symptoms in six children.

Sjögren-Larsson syndrome (SLS) is a rare autosomal recessive disorder characterized by triad of congenital ichthyosis, spastic paresis, and mental retardation. It is an inborn error of lipid metabolism caused by deficiency of the enzyme fatty aldehyde dehydrogenase. We report our observations of six children with SLS.

Congenital atrichia associated with situs inversus and mesocardia.

Congenital alopecia includes a broad differential diagnosis and presents a diagnostic and therapeutic challenge for the physician. Congenital atrichia is a rare form of irreversible alopecia that is usually inherited as an autosomal recessive pattern. We report a 2-year-old male child presenting with total alopecia of scalp, eyebrows, eyelashes, and body hair since birth.

Effectiveness of pulsed dye laser in the treatment of recalcitrant warts in children.

Background: To determine the efficacy and safety of the 585-nm pulsed dye laser (PDL) in the treatment of recalcitrant warts in children.

Methods And Material: Retrospective survey of the medical records of children with recalcitrant warts who were treated with PDL between March 1995 through January 1999 at the Children's Memorial Hospital outpatient subspecialty center, Chicago, Illinois.

Results: Sixty-one children with recalcitrant warts were treated with PDL; 75% of them had total clearance of warts after an average of 3.

Polymorphisms of the IL12B and IL23R genes are associated with psoriasis.

Psoriasis is a common inflammatory and hyperproliferative skin disease with a multifactorial genetic basis. A recent study reported that psoriasis was associated with the IL12B haplotype rs3212227 (3'-untranslated region)-rs6887695 (60 kb, 5') and the IL23R haplotype rs7530511 (L310P)-rs11209026 (Q381R). We examined these four single-nucleotide polymorphisms (SNPs) for association with psoriasis in two groups of North American and German Caucasians: (1) 1,810 cases and 2,522 controls; and (2) 509 pedigrees.

Molecular diagnostics in genodermatoses - simplified.

The field of genetics in dermatology has progressed at an astonishing rate. Most of the known single gene disorders have at least been mapped to a particular chromosomal region and the causative genes have been identified and studied in many of them. However, most research work in genetics relating to genodermatoses has been confined to the western population.

Prevalence of antigliadin antibodies in patients with psoriasis is not elevated compared with controls.

Background: Antigliadin antibodies (AGAs) are markers of celiac sprue but may have autoimmune implications in the absence of gastrointestinal disease. There is anecdotal evidence to suggest that gluten sensitivity may play a role in psoriasis, and patients with psoriasis in Europe have been reported to improve on a gluten-free diet.

Objective: To assess whether patients with psoriasis in the US have an increased prevalence of elevated AGAs.

Sequence and haplotype analysis supports HLA-C as the psoriasis susceptibility 1 gene.

Previous studies have narrowed the interval containing PSORS1, the psoriasis-susceptibility locus in the major histocompatibility complex (MHC), to an approximately 300-kb region containing HLA-C and at least 10 other genes. In an effort to identify the PSORS1 gene, we cloned and completely sequenced this region from both chromosomes of five individuals. Two of the sequenced haplotypes were associated with psoriasis (risk), and the other eight were clearly unassociated (nonrisk).