Photosensitivity disorders in children: part I.

Photosensitivity disorders in children encompass a diverse group of diseases. Compared to adult patients, underlying systemic disorders, including genetic or metabolic defects, are common causes in pediatric photosensitivity disorders. Photosensitivity in a child should be suspected if the child develops a sunburn reaction in sun-exposed sites after limited sun exposure. Diagnosis of a photodermatosis is made based on careful history taking and a physical examination. Early recognition and prompt diagnosis are essential to minimize long-term complications associated with inadequate photoprotection. In part I of this continuing medical education article, immunologically mediated photodermatoses, photodermatoses caused by exogenous photosensitizers, and the cutaneous porphyrias will be covered.

Photosensitivity disorders in children: part II.

Photosensitivity disorders in children encompass a diverse group of diseases. Some inherited disorders manifest with photosensitivity early in life. Specific extracutaneous association may be the clue to diagnosis in this group of pediatric photodermatoses. Part II of this 2-part review covers hereditary photodermatoses caused by defects in nucleotide excision repair, double strand break repair, or localized or systemic biochemical abnormalities. Diagnosis and management of photoaggravated dermatoses are also discussed. Sun protection strategies are required in all patients with evidence of photosensitivity. Early recognition and prompt diagnosis is essential to minimize the long-term complications associated with inadequate photoprotection.

Death from mast cell leukemia: a young patient with longstanding cutaneous mastocytosis evolving into fatal mast cell leukemia.

  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.

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

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.

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

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.

Neonatal lupus erythematosus: clinical character, investigation, and outcome.

Neonatal lupus erythematosus is an uncommon maternal auto-antibody-associated disease characterized by cutaneous, cardiac, hepatic, hematological, neurological, and pulmonary involvement. A retrospective study was performed to review clinical manifestations, investigation results, outcomes of neonatal lupus erythematosus patients and their mothers at the Department of Pediatrics, Siriraj Hospital during 1993 to 2008. Seventeen neonatal lupus erythematosus patients (10 girls and seven boys) were identified. Cutaneous, cardiac, hepatobiliary, and hematological involvement was found in 70.6%, 64.7%, 52.9%, and 35.3% of infants, respectively. Skin lesions were erythematous patches (91.7%), subacute cutaneous lupus erythematosus (50%), petechiae (41.7%), persistent cutis marmorata (16.7%), and discoid lesions (8.3%). Congenital heart block was found in nine cases, and structural abnormalities were found in nine cases. All sera of patients were positive for antinuclear antibodies. Patients (87.5%) showed positive antiRo/SSA, and 50% had positive antiLa/SSB antibodies. Most neonatal lupus erythematosus mothers (64.7%) were asymptomatic. Five mothers were diagnosed with systemic lupus erythematosus, and one mother was diagnosed with mixed connective tissue disease. All maternal sera was positive for antinuclear antibodies and antiRo/SSA antibody. Seven patients required pacemaker implantation. The mortality rate was 11.8%, caused by congestive heart failure and pneumonia. Antinuclear antibody tests should be used as one of the screening tests in mothers or patients suspected of having neonatal lupus erythematosus.

Severe congenital systemic juvenile xanthogranuloma in monozygotic twins.

Juvenile xanthogranuloma, a histiocyte disorder, usually presents with a solitary cutaneous lesion. Juvenile xanthogranuloma with extracutaneous involvement is a rare disease in which significant morbidity and occasional deaths may occur. Monozygotic twins with congenital systemic juvenile xanthogranuloma who presented with multiple skin lesions, hepatosplenomegaly, liver failure, and bone marrow involvement were reported. The diagnosis of systemic juvenile xanthogranuloma was confirmed by histology and immunohistochemical stains of the skin with liver biopsies revealing dense infiltration of lymphohistiocytes with typical Touton giant cells staining positive for CD68 and negative for CD1a and S-100 protein. Both of them received systemic prednisolone 1 mg/kg/day which was gradually tapered off with time according to clinical and investigative responses. At the 17-month follow-up period, both patients showed remarkable regression in all symptoms and laboratory studies.

Hematidrosis: a pathologic process or stigmata. A case report with comprehensive histopathologic and immunoperoxidase studies.

Cases of hematidrosis (bloody sweat) are extremely rare. This disease has been described in various terms and has been often tied to religious belief as stigmatization. We report a typical patient with hematidrosis in a 14-year-old girl who frequently bled from her scalp and palms, and, occasionally, from trunk, soles, and legs. The bloody sweat from her scalp contained all blood elements. Immediate biopsy after there was bleeding on her scalp showed multiple blood-filled spaces that opened directly into the follicular canals or on to the skin surface. Immunoperoxidase studies failed to demonstrate vascular nature of these spaces. Our study explained how and why there was bleeding in our patient and in patients with related conditions as described in earlier literatures. We also explained why this phenomenon was intermittent because the spaces indicated above will disappear after exuding their content but then reoccurred after the blood flow was reestablished.