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.
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.
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 (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.
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