Hepatoerythropoietic porphyria misdiagnosed as child abuse: cutaneous, arthritic, and hematologic manifestations in siblings with a novel UROD mutation.

Background: Hepatoerythropoietic porphyria (HEP) is a rare autosomal recessive disorder resulting from the markedly deficient, but not absent, activity of the heme biosynthetic enzyme uroporphyrinogen decarboxylase (UROD). The disorder typically manifests during infancy or early childhood with extreme photosensitivity, skin fragility in sun-exposed areas, hypertrichosis, erythrodontia, and pink urine.

Observations: Three siblings, offspring of parents of Puerto Rican and Dominican descent, had with excessive scarring on the face and dorsal aspect of the forearms, which initially led to the erroneous suspicion of child abuse.

Prenatal diagnosis of genodermatoses: current scope and future capabilities.

The genodermatoses encompass a range of inheritable skin diseases that may be associated with significant mortality and long-term morbidity. In the past, options for prenatal diagnosis of these diseases were limited to fetal skin biopsy. As a result of recent leaps made in genetics and molecular biology, DNA-based prenatal diagnosis is now available for an increasing number of genodermatoses, and newer non-invasive methods are being developed that have the potential for tremendous future impact in dermatology.

Outcomes of childhood hemangiomas treated with the pulsed-dye laser with dynamic cooling: a retrospective chart analysis.

Background: Laser treatment of childhood hemangiomas remains controversial. Previous studies have used outdated technology, resulting in a potential overrepresentation of adverse outcomes.

Objective: To evaluate outcomes of hemangiomas treated with the most current laser technology.

Practical guidelines for evaluation of loose anagen hair syndrome.

Objectives: To better categorize the epidemiologic profile, clinical features, and disease associations of loose anagen hair syndrome (LAHS) compared with other forms of childhood alopecia.

Design: Retrospective survey.

Setting: Academic pediatric dermatology practice.

Primary cutaneous zygomycosis in two immunocompromised children.

Zygomycosis, often referred to as ''mucormycosis'' or ''phycomycosis,'' is a rapidly progressive fungal infection which usually occurs in immunocompromised individuals, and is characterized by soft tissue destruction and invasion of blood vessels. The rare and easily misdiagnosed primary cutaneous form may present as a superficial erosion with a painless, gradual onset and slow progression of symptoms or a gangrenous, necrotic ulceration due to rapid tissue and vascular invasion. With the latter form, the mortality rate among affected individuals is high even after aggressive surgical debridement and amphotericin B administration, emphasizing the importance of early recognition and proper diagnosis.

Childhood acne: evaluation and management.

Acne is a disease that can be seen in the first year of life, early childhood, prepubertal age, and puberty. The purpose of this article is to review the clinical presentation and pathogenesis of the various forms of prepubertal acne and to propose guidelines regarding its evaluation and treatment. The early clinical recognition of the disease and prompt initiation of therapy in these age groups will help prevent the sequelae of emotional distress and severe scarring in both the child and parents.