Patricia Bassas

Eruptive juvenile xanthogranuloma associated with relapsing acute lymphoblastic leukemia.

Abstract:  Juvenile xanthogranuloma is a benign, self‐healing disorder with characteristic lesions mainly involving the skin. Although most patients with juvenile xanthogranuloma have only cutaneous symptoms, recent articles have documented extracutaneous manifestations: systemic involvement of many organs has been reported and there is a known association between juvenile xanthogranuloma and childhood leukemia, most commonly juvenile chronic myelogenous leukemia. This case provides further corroboration, that in rare instances, juvenile xanthogranuloma may be associated with hematologic malignancies.

Pitiriasis rubra pilaris aguda postinfecciosa: una dermatosis mediada por superantígenos

Resumen La pitiriasis rubra pilaris (PRP) aguda postinfecciosa es una variante de la forma juvenil de PRP (tipo III de Griffiths) caracterizada por la ausencia de antecedentes familiares, curso agudo relacionado con un episodio febril previo y buen pronostico. Clinicamente puede simular otras enfermedades mediadas por superantigenos, como los exantemas escarlatiniformes o el sindrome de la escaldadura estafilococica; sin embargo, su histologia y tratamiento son distintos. Presentamos 4 casos de PRP aguda postinfecciosa que ilustran las caracteristicas clinicas de este proceso infrecuente y revisamos los posibles mecanismos fisiopatogenicos subyacentes.

Anticoagulation and Antiplatelet Therapy in Dermatology

An increasing number of patients who are receiving anticoagulation or antiplatelet therapy require cutaneous surgery. Such pharmacotherapies are usually suspended based on experience in gynecologic, thoracic, and abdominal surgery. However, this practice may increase the risk of suffering a thromboembolic event. We review perioperative management of anticoagulant and antiplatelet therapy, complications associated with suspending therapy, and side effects.

Acute Postinfectious Pityriasis Rubra Pilaris: A Superantigenmediated Dermatosis

Acute postinfectious pityriasis rubra pilaris (PRP) is a variant of juvenile PRP (Griffiths type III) characterized by no family history, an acute course associated with a prior fever, and good prognosis. Clinical features may resemble other superantigen-mediated diseases, such as scarlatiniform rash or staphylococcal scalded skin syndrome, but its histology and treatment are different. We present 4 cases of acute postinfectious PRP that illustrate the clinical features of this uncommon disease and we review possible underlying pathogenic mechanisms.

Xantomatosis cerebrotendinosa: descripción de 4 casos

Cerebrotendinous xanthomatosis (CTX) is an uncommon autosomal recessive disease caused by mutation of the CYP27A1 gene. It is characterized by the presence of xanthomas in different tissues, principally brain and tendon, due to the accumulation of β-cholestanol. Diagnosis is confirmed by measurement of serum β-cholestanol and urinary bile alcohol levels. Therapy with chenodeoxycholic acid has been shown to be the most effective treatment and can halt progression of the disease. We present 4 patients with a history of neurological disorders since childhood and who were diagnosed with CTX after developing tendon xanthomas. Although diagnostic suspicion depends to a large extent on recognition of tendon xanthomas, these are not an early sign of the disease, which can present with neurological disorders, cataracts, and chronic diarrhea. Early diagnosis of CTX therefore rests on measurement of serum β-cholestanol levels, even in absence of tendon xanthomas.

Utility of Ultrasound in a Rapidly Growing Cutaneous Nodule in an Infant

A healthy 8-year-old girl consulted for a rapidly growing nodule on her left arm, which had appeared after a contusion 6 weeks earlier. Physical examination results revealed an indurated nodule, 2.5 cm in diameter, violaceous, with a pseudoblisterous surface (Figure 1; available at www.jpeds.com). Ultrasonography showed a well-defined subcutaneous nodule with central hyperechoic points, peripheral hypoechoic rim, and a posterior acoustic shadowing; echo-Doppler scanning revealed increased peripheral vascularity. All of this is compatible with pilomatrixoma (Figure 2). Surgical excision was performed and histopathologic examination showed a well-demarcated subcutaneous tumor, with a peripheral proliferation of basaloid cells, central eosinophilic shadow cells, and areas of calcification. The overlying dermis showed a lax tissue with dilated lymphatic vessels and without elastic fibers, consistent with anetodermic pilomatrixoma (Figure 3; available at www.jpeds.com). Pilomatrixoma, a benign appendage tumor derived from the matrix cells of the hair follicle, appears mainly in children or young adults and is normally located in the head, neck, and upper extremities. It is usually solitary, asymptomatic, with a slow-growing pattern and with a characteristic histology. Ultrasonography is an accessible, quick, and noninvasive imaging tool; it is gaining an important role in the diagnosis of cutaneous lesions, especially in pediatric patients. It has been seen that the combination of central internal heterogeneous echo texture by scattered pattern calcifications,peripheral hypoechoic rim,and subsequentposterior shadowing could be discriminative ultrasonographic criteria for differentiating pilomatrixoma from other subcutaneous tumours. Anetodermic pilomatrixoma is rare. Clinically, it is characterized by atrophic, wrinkled, pseudoblisterous, or bulla-like changes of the skin overlying the tumor. Preceding mechanical trauma at the site of occurrence of the tumor has been reported, as is the case in our patient. It would lead to the disruption of the dermal integrity and cutaneous microcirculation responsible of the clinical appearance of the tumor. ■

Cerebrotendinous Xanthomatosis: Report of 4 Patients

Cerebrotendinous xanthomatosis (CTX) is an uncommon autosomal recessive disease caused by mutation of the CYP27A1 gene. It is characterized by the presence of xanthomas in different tissues, principally brain and tendon, due to the accumulation of beta-cholestanol. Diagnosis is confirmed by measurement of serum beta-cholestanol and urinary bile alcohol levels. Therapy with chenodeoxycholic acid has been shown to be the most effective treatment and can halt progression of the disease. We present 4 patients with a history of neurological disorders since childhood and who were diagnosed with CTX after developing tendon xanthomas. Although diagnostic suspicion depends to a large extent on recognition of tendon xanthomas, these are not an early sign of the disease, which can present with neurological disorders, cataracts, and chronic diarrhea. Early diagnosis of CTX therefore rests on measurement of serum beta-cholestanol levels, even in absence of tendon xanthomas.