Questioning the Clinical Utility of Exome Sequencing in Developing Countries.

The availability of whole-exome sequencing has revolutionized the study of genetic disease in recent years, particularly in dermatology, where clinical phenotypes are readily recognized. As this technology becomes increasingly affordable and accessible, questions are emerging regarding the clinical and ethical responsibilities of physicians who determine variants underlying disease, especially with regard to children, for whom treatment may be warranted and clinical course improved based on a known genotype. These responsibilities are accentuated in the developing countries, which harbor most consanguineous populations and thus bear the brunt of monogenic genodermatoses.

Atypical Fibroxanthoma in a 13-Year-Old Guatemalan Girl with Xeroderma Pigmentosum.

Xeroderma pigmentosum (XP) is a rare, autosomal recessive disease involving a defect in DNA repair leading to the premature development of numerous aggressive cutaneous malignancies. Although atypical fibroxanthoma (AFX) is a neoplasm typically found in the setting of extensive sun exposure or therapeutic radiation, AFXs are rarely associated with children with XP. We report the case of a 13-year-old Guatemalan girl with the XP type C variant who developed one of the largest AFXs reported on a child's finger.

Transcription restores DNA repair to heterochromatin, determining regional mutation rates in cancer genomes.

Somatic mutations in cancer are more frequent in heterochromatic and late-replicating regions of the genome. We report that regional disparities in mutation density are virtually abolished within transcriptionally silent genomic regions of cutaneous squamous cell carcinomas (cSCCs) arising in an XPC(-/-) background. XPC(-/-) cells lack global genome nucleotide excision repair (GG-NER), thus establishing differential access of DNA repair machinery within chromatin-rich regions of the genome as the primary cause for the regional disparity.

Allergic contact dermatitis to Pampers Drymax.

We present four cases of children less than 2 years of age, seen in four different practices, with a similar, unique, and specific presentation of diaper dermatitis, all while using Pampers Baby Dry with Drymax technology. To date, no reported cases exist of allergic contact dermatitis to Pampers Dryweave in medical literature.

Photodynamic therapy in a teenage girl with xeroderma pigmentosum type C.

Despite aggressive sun protection, most individuals with xeroderma pigmentosum (XP) develop cutaneous neoplasia, including actinic keratoses. We describe the case of a 16-year-old girl with XP type C treated safely with photodynamic therapy (PDT). Although there is little if any evidence in the literature supporting the use of aminolevulinic acid PDT in individuals with XP, they may be the ideal candidates for PDT treatment because the profound post-treatment photosensitivity and strict post-therapy sun avoidance necessitated by PDT treatment is already part of the everyday lifestyle of people with XP.

Diagnosing xeroderma pigmentosum group C by immunohistochemistry.

Xeroderma pigmentosum (XP) is a group of rare inherited human neurocutaneous diseases, and the group C (XPC) is the major group of patients with XP in Europe, North America, and South America. Current molecular diagnostic methods for XP require specialized, expensive, and time-consuming UV sensitivity and DNA repair assays followed by gene sequencing. To determine whether immunohistochemistry (IHC) would be a robust alternative method to diagnose patients with XPC, we stained sections of paraffin-embedded skin biopsies for XPC by IHC, using 69 archived blocks from confirmed or clinically suspect patients with XPA, XPC, XPD, XPE, and without XP.

5% 5-Fluorouracil cream for treatment of verruca vulgaris in children.

Warts are a common pediatric skin disease. Most treatments show only modest benefit, and some are poorly tolerated because of pain. 5-fluorouracil interferes with deoxyribonucleic acid and ribonucleic acid synthesis, and is used to treat genital warts in adults.

Ectopic acanthosis nigricans occurring in a child after syndactyly repair.

Skin grafts from the groin area were used to repair syndactyly of the fourth and fifth fingers in an 8-month-old infant with oculodentodigital dysplasia (ODD). At 12 years of age, he developed hyperpigmented velvety plaques at the repair sites. This patient is the first reported case of acanthosis nigricans (AN) occurring in a graft site after syndactyly repair.

Toddler wrap for abdominal biopsy or excision.

Young children, especially toddlers, are anxious and uncooperative during skin procedures. Wrapping a sheet or blanket around the child is an effective way to restrain the child to maintain a sterile field. The wrap can be used for skin biopsies and small excisions on the midsection of the body, arms, and legs.

SCALP syndrome: sebaceous nevus syndrome, CNS malformations, aplasia cutis congenita, limbal dermoid, and pigmented nevus (giant congenital melanocytic nevus) with neurocutaneous melanosis: a distinct syndromic entity.

Nevus sebaceus syndrome (SNS) is a constellation of nevus sebaceus with extracutaneous findings, including the ophthalmologic nervous, and musculoskeletal systems. Didymosis aplasticosebacea is a recently described entity consisting of aplasia cutis congenita and nevus sebaceus, implying twin spotting (didymosis). We describe a neonate with a nevus sebaceus on the scalp and a limbal dermoid on her left eye.

Epstein-Barr virus-associated genital ulcers: an under-recognized disorder.

Infectious mononucleosis is the best-known syndrome associated with primary Epstein-Barr virus infection. Although a variety of cutaneous and mucosal manifestations are recognized in infectious mononucleosis, genital ulcers have only rarely been described. We describe an otherwise healthy 14-year-old girl in whom painful genital ulcers developed during an episode of serologically-confirmed primary Epstein-Barr virus infection.

Pediatric surgical pearls: minimizing complications.

Performing dermatologic surgery in infants and children presents unique challenges. A thorough understanding of both pediatric developmental milestones and their unique surgical circumstances is essential to providing optimal dermatologic care of the pediatric patient. In this work, we combine the authors' experiences with data from the literature to provide pediatric dermatologic procedural pearls.

Sjögren-Larsson syndrome: a case report and literature review.

Sjögren-Larsson syndrome (SLS) is an autosomal recessive neurocutaneous disorder most commonly seen in the Scandinavian population and characterized by congenital ichthyosis, mental retardation, and spastic diplegia or quadriplegia. We report a case of SLS in an 11-month-old girl of Lebanese and Mexican-Syrian ancestry who presented with ichthyosis, developmental delay, and spasticity. Results of an enzymatic assay and genomic DNA testing in cultured skin fibroblasts confirmed a homozygous C237Y mutation.

Generalized atrophic dells in a newborn.

Infantile myofibromatosis (IM) is a nonmetastasizing locally invasive neoplasm. The behavior of the tumor is more hamartomatous than tumoral, and it is unclear whether the cell of origin is a fibroblast or a smooth muscle myocyte. Lesions typically present during infancy and range in size from a few millimeters to several centimeters.

What is standard of care in the evaluation of elastosis perforans serpiginosa? A survey of pediatric dermatologists.

Elastosis perforans serpiginosa is a rare chronic dermatosis characterized by extrusion of altered elastic fibers through the epidermis. It often occurs in association with a variety of connective tissue disorders, and may develop following penicillamine therapy; however, it may also present without comorbidities. There are currently no well-established protocols for the investigation of possible associated disorders in patients who present with elastosis perforans serpiginosa.

General anesthesia for pediatric dermatologic procedures: risks and complications.

Objective: To assess the safety and adverse events associated with the use of general anesthesia in children undergoing elective dermatologic procedures.

Design: A multicenter retrospective review.

Setting: Children's Hospital and Health Center, San Diego, Calif, and Northwestern University School of Medicine, Chicago, Ill.

A practical approach for the use of oral isotretinoin for infantile acne.

Infantile acne is a rare occurrence. It is more common in boys and predominately occurs on the cheeks in infants between the ages of 1 and 16 months. Clinically, the lesions range from comedones to inflammatory papulopustules to cysts.

Connective tissue disease in children.

As our understanding of connective tissue disease expands, so too does our therapeutic armamentarium. We have learned that autoimmunity triggers inflammation through unchecked, proliferative cell-mediated inflammation. By targeting this arm of the cytokine cascade, it may be possible to arrest further progression.

Dyskeratosis congenita in an adolescent girl with associated choanal atresia.

Dyskeratosis congenita is a rare, progressive, degenerative disorder characterized by cutaneous and mucosal involvement in the first decade of life with malignant changes and bone marrow failure in the second and third decades. The primary inheritance pattern is X-linked recessive, with the majority of cases presenting in boys. We report dyskeratosis congenita in an adolescent girl with choanal atresia, a previously unreported association.

Identifying potential regulators of infantile hemangioma progression through large-scale expression analysis: a possible role for the immune system and indoleamine 2,3 dioxygenase (IDO) during involution.

Hemangiomas are benign endothelial tumors. Often referred to as hemangiomas of infancy (HOI), these tumors are the most common tumor of infancy. Most of these lesions proliferate rapidly in the first months of life, and subsequently slowly involute during early childhood without significant complications.