Biomedical subjects
Publications and source records attributed to A Metzker.
A patient with Wilson's disease who developed elastosis perforans serpiginosa and localized cutis laxa during prolonged treatment with D-penicillamine is described. Induction of elastosis perforans serpiginosa and of cutis laxa by D-penicillamine may be due to a similar mechanism.
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OBJECTIVE: To describe an infant with neonatal lupus erythematosus associated with aplastic anemia. SETTING: The pediatric department in a tertiary-care hospital. INTERVENTIONS: Packed red blood cell transfusions and a 3-week course of high-dose steroid therapy. MEASUREMENTS/MAIN RESULTS: The patient presented with severe anemia and a circumscribed, reticular, macular rash on the face and neck at 5 months of age. Skin lesion biopsy revealed epidermic hyperkeratosis, hydropic degeneration of the basal layer, and deposition of immunoglobulins and granular C1q at the dermoepidermal junction. Ro/SS-A antibodies were present in the infant. BFU-E (erythroid progenitor burst-forming unit) colonies in bone marrow increased by about tenfold when suppressor CD8+ T lymphocytes were removed, indicating immune suppression of hematopoiesis. High-dose steroid therapy failed. The infant subsequently developed gram-negative sepsis, severe metabolic acidosis, and consumptive coagulopathy and died. CONCLUSIONS: Neonatal lupus erythematosus may present as part of a spectrum. The disease may range from mild and transient to a severe, life-threatening condition requiring immediate intervention, as in the case reported here. This is the first report of neonatal lupus associated with aplastic anemia due to immune-mediated suppression of hematopoiesis.
BACKGROUND: We review our experience with nine patients with partial unilateral lentiginosis (PUL), a rare pigmentary disorder. OBJECTIVE: Our purpose was to define the characteristics of PUL and to discuss the differential diagnosis. METHODS: The records of nine patients with PUL were reviewed. A literature review on diagnosis, association with other disorders, and differential diagnosis is presented. RESULTS: PUL is a rare benign disorder that has no known inheritance pattern and has no commonly associated abnormalities. CONCLUSION: Careful history and physical examination may enable the distinction between PUL, nevus spilus, and other more serious genetic disorders associated with lentiginosis.
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A female patient with epidermal nevus syndrome is reported. There were linear epidermal nevi, hemihyperplasia of the limbs and tongue, macrocephaly, several ophthalmic malformations, and multiple radiolucent lesions in the limbs and sacroiliac region. At age 14 years, she developed a giant cell granuloma of the maxilla.
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The syndrome of Albright hereditary osteodystrophy (AHO), pseudohypoparathyroidism (PHP) and pseudopseudohypoparathyroidism (PPHP) is clinically and genetically heterogeneous. Classically, patients with PHP have the skeletal features of AHO, resistance to multiple hormones that work via cAMP such as parathyroid hormone and thyroid stimulating hormone, and deficient activity of Gs protein, the guanine nucleotide-binding protein that stimulates adenylate cyclase. However, patients without hormone resistance but with AHO and Gs deficiency were described (PPHP), as well as patients with multiple hormone resistance but without AHO or Gs deficiency. In a few patients with deficient Gs activity, hypothyroidism rather than hypocalcemia was the initial presentation of the disorder. We describe here a new variant of the syndrome, affecting 5 individuals in a 3 generation family with AHO, normal Gs activity and hypothyroidism. In the first 2 generations, mild features of AHO were present. The 2 sibs in the third generation had severe manifestations of AHO, including mild mental retardation as well as hypothyroidism. Diagnosis of congenital osteoma cutis at birth of the proband led to the diagnosis of the family. Elucidation of the molecular defect will shed light on the relationship between hormone resistance and AHO, as well as on the physiological mechanism of hormonal signal transduction.
One hundred two infants and children age 3 days to 16.5 years, found to have accessory nipples (AN), were enrolled in this study. They were categorized by ethnic origin, sex, positive family history of AN, and number, site, and shape of AN, to determine factors for increased risk of anomalies of the urinary tract. Physical and ultrasound examinations of the abdomen did not reveal evidence of urinary tract malformation in any of the children. The results of this survey support the contentions that AN are not associated with urinary tract malformations, and that no further investigation is required in children with solitary AN.
Halo dermatitis is a pruritic, eczematous eruption on pigmented nevi and halo nevi in young adults. It may be mistaken for nummular eczema, psoriasis, or fungal skin infection. Awareness of halo dermatitis will possibly reveal more cases in children, which have been reported only rarely.
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BACKGROUND: Purpuric eruptions due to local mechanical causes are commonly seen, particularly in children. These eruptions are not always recognized as isolated purpura, and the patient may be submitted to an unnecessary extensive hematologic workup. We present various causes of suction purpura and outline a logical investigational approach. OBSERVATIONS: Suction purpura result from an external force exerting negative pressure on a circumscribed area of the skin, producing small grouped petechiae. We present a number of such suction purpura-causing mechanisms: Pressure during the delivery of a neonate, children's habits or play activities, and iatrogenic causes produce similar cutaneous lesions. We also describe the gas mask suction purpura for the first time. CONCLUSIONS: Once the causative factor is established, there is no need for further investigation or treatment of suction purpura. The lesions will fade completely within a few days.
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Nevus flammeus has been described as an inherited vascular anomaly. We report two cases of nevus flammeus, each appearing in one of two monozygotic twins. This finding supports the idea that nevus flammeus results from embryologic mishap rather than genetic transmission.
Infantile acropustulosis is a recurrent, pruritic, vesicopustular eruption appearing mostly on the palms and soles. The present survey of 25 children with infantile acropustulosis is the most extensive reported since this entity was first described in 1979. Our cases conform to the recognized clinical course, but disclaim any male or ethnic origin predominance. Although the etiology of infantile acropustulosis is obscure, it may be ascribed to some infective agent. It is not limited to young children, and has been found in the siblings of patients who were followed. Suppressive therapeutic measures, such as topical corticosteroids under occlusion, were found to be effective. The disorder does not seem to be as rare as one might gather from the literature.
Cogenital smooth muscle hamartoma is a congenital skin lesion characterized by proliferation of bundles of smooth muscle within the reticular dermis. We report on a group of 15 children with this lesion, confirmed by skin biopsy specimen, its prevalence, the occurrence of associated anomalies, and long- term follow-up. To our knowledge, this is the largest group of patients with this lesion described in the literature. The estimated prevalence is about 1:2600 live births with slight male predominance. The lesion is most frequent in the lumbosacral area (67% [10/15]) and a positive pseudo-Darier's sign is present in 80% (12/15) of patients. During the follow-up period of up to 7 years, the lesions enlarged slightly but became less prominent. No malignant transformation was observed.