Tor Shwayder

Cutaneous Manifestations of Child Abuse

Abstract:  Dermatologists and child abuse are not frequently associated in the minds of most physicians. Yet the most common manifestations of child abuse are cutaneous. This article reviews cutaneous manifestations of physical abuse, including bruises, lacerations, abrasions, human bites, and burns. It also discusses ways that dermatologists can differentiate abusive injuries from accidental ones as well as from the many dermatologic conditions that can mimic child abuse. Finally, we review what actions the dermatologist should take when suspecting abuse in a patient.

Occurrence of Pustular Psoriasis after Treatment of Crohn Disease with Infliximab

Abstract:  We report a case of pustular psoriasis induced by anti‐TNF‐α therapy in a 12‐year‐old boy with inflammatory bowel disease. This is a well‐documented phenomenon but remains a clinical challenge, especially when presenting in the pediatric setting.

Poikiloderma with neutropenia: report of three cases including one with calcinosis cutis.

Abstract:  Poikiloderma with neutropenia (PN), Clericuzio type (OMIM #604173) is a new, unique genodermatosis first described by Clericuzio et al (Am J Med Genet A, 2011, 155, 337) in Navajo Indian population. This disease is characterized by poikiloderma that usually develops in the first year of life and is associated with nail abnormality, palmoplantar hyperkeratosis, chronic neutropenia, and recurrent infections. The rash typically starts from the extremities and spreads centripetally to involve the trunk, face, and ears. Recently, a homozygous mutation in the C16orf57 gene on chromosome 16q13 was identified as a strong candidate as the gene responsible for PN. We report three cases of PN whose clinical presentations, laboratory investigations, and C16orf57 mutation support the diagnosis of PN. One child has developed multiple painful calcinosis cutis lesions. Early‐onset poikiloderma should prompt a complete blood count as a screening test.

Death from Mast Cell Leukemia: A Young Patient with Longstanding Cutaneous Mastocytosis Evolving into Fatal Mast Cell Leukemia

Abstract:   Mastocytosis is a broad term used for a group of disorders characterized by accumulation of mast cells in the skin with or without extracutaneous involvement. The clinical spectrum of the disease varies from only cutaneous lesions to highly aggressive systemic involvement such as mast cell leukemia. Mastocytosis can present from birth to adulthood. In children, mastocytosis is usually benign, and there is a good chance of spontaneous regression at puberty, unlike adult‐onset disease, which is generally systemic and more severe. Moreover, individuals with systemic mastocytosis may be at risk of developing hematologic malignancies. We describe a girl who presented to us with a solitary mastocytoma at age 5 and later developed maculopapular cutaneous mastocytosis. At age 23, after an episode of anaphylactic shock, a bone marrow examination revealed mast cell leukemia. She ultimately died despite aggressive chemotherapy and bone marrow transplantation.

Phacomatosis pigmentokeratotica: a further case without extracutaneous anomalies and review of the condition.

Abstract:  Epidermal nevus syndrome is the term for the association of an epidermal nevus and extracutaneous anomalies, including neurologic, ophthalmic, and skeletal defects. Epidermal nevus syndromes include different disorders that share the feature of mosaicism. Phacomatosis pigmentokeratotica (PPK) is a distinctive new epidermal nevus syndrome first described in 1996 characterized by the presence of multiple organoid nevi with sebaceous differentiation, a speckled lentiginous nevus, and skeletal and neurologic abnormalities. Only a handful of cases of PPK without extracutaneous manifestations have been reported. We report here an individual with PPK with only cutaneous signs and confirm this distinctive syndrome has two subtypes according to the presence or absence of extracutaneous involvement.

Eccrine Nevus Presenting as a Hypopigmented Patch

Abstract:  A 14‐month‐old Caucasian male presented with a hypopigmented patch associated with increased perspiration on the right side of his back, flank, and abdomen. Starch iodide test and biopsy revealed an eccrine nevus. The truncal presentation and light color both were unique presentations of this rare hamartoma.

Bullous Dermolysis of the Newborn: Four New Cases and Clinical Review

Bullous dermolysis of the newborn (BDN) is a subtype of dystrophic epidermolysis bullosa caused by mutations in type VII collagen resulting in disorganized anchoring fibrils and sublamina densa blister formation. Disease activity is usually confined to the first year of life, with restoration of physiologic type VII collagen localization. We report four new cases of BDN and review the utility of immunofluorescence mapping in establishing the diagnosis.

Tubular Apocrine Adenoma: Presentation in the Vaginal Introitus of an Eight-Year-Old

Abstract:  Tubular apocrine adenoma is a very rare hamartomatous lesion that to our knowledge has never been described in the anogenital region in the pediatric population. A brief report of a tubular apocrine adenoma in the vaginal introitus of an 8‐year‐old.

Glomuvenous Malformation in a Boy with Transposition of the Great Vessels: A Case Report and Review of Literature

Abstract:  We report a case of glomuvenous malformation (GVM) in an 11‐year‐old boy with a history of transposition of the great vessels. The glomulin gene was discovered in 1999, and multiple mutations have been identified with some of the mutations resulting in GVM. The molecular genetics, clinical presentation, histopathology, differential diagnosis, and management of GVM are reviewed. To our knowledge, no case of glomuvenous malformation in the setting of transposition of the great vessels has ever been reported in the literature.

Re: Management of nevus sebaceous and the risk of basal cell carcinoma: an 18-year review. By Rosen et al: Pediatric Dermatology v26, n6, 676-681, Nov/Dec 2009.

Letters to the Editor are welcomed for publication (subject to editing). Letters must be signed by all authors, and must not exceed two pages of text including references. Letters should not duplicate material submitted or published in other journals. Prepublication proofs will not be provided.