Domingo Bodet

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.

Genetic Evolution of Nevus of Ota Reveals Clonal Heterogeneity Acquiring BAP1 and TP53 Mutations

Melanoma presents molecular alterations based on its anatomical location and exposure to environmental factors. Due to its intrinsic genetic heterogeneity, a simple snapshot of a tumors genetic alterations does not reflect the tumor clonal complexity or specific gene–gene cooperation. Here, we studied the genetic alterations and clonal evolution of a unique patient with a Nevus of Ota that developed into a recurring uveal‐like dermal melanoma. The Nevus of Ota and ulterior lesions contained GNAQ mutations were c‐KIT positive, and tumors showed an increased RAS pathway activity during progression. Whole‐exome sequencing of these lesions revealed the acquisition of BAP1 and TP53 mutations during tumor evolution, thereby unmasking clonal heterogeneity and allowing the identification of cooperating genes within the same tumor. Our results highlight the importance of studying tumor genetic evolution to identify cooperating mechanisms and delineate effective therapies.

A peculiar inheritance

D d a t o Case notes Over a 6-year period, a 62-year-old woman experienced asymptomatic progressive pigmentation of the vulva and perianal skin. She had been diagnosed with breast cancer in 2007 and was treated with surgery, adjuvant radiotherapy, and chemotherapy. To date, she has been in complete remission. Her family history did not include melanoma or periorificial lentiginosis. Physical examination revealed reticulated and confluent pigmentation of perianal, perineal, and vulvar skin, affecting the labia majora and minora (Figure 1). Small, soft, dark-brown papules had developed in all of these areas (Figure 2). Both axillary flexures were thickened and marked by light-brown pigmentation, with a reticulated pattern. The oral mucosa was not affected. A biopsy specimen was taken, and histopathological analysis identified filiform elongation of epidermal rete ridges with prominent pigmentation of basal keratinocytes. There was no apparent increase in melanocytes.

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.

Genetic Profiles of Squamous Cell Carcinomas Associated with Recessive Dystrophic Epidermolysis Bullosa Unveil NOTCH and TP53 Mutations and an Increased MYC Expression

Please cite this article as: Sans-DeSanNicolas L, Caratú G, Vidal-Cortés O, Sanchez-Redondo S, Ferrer B, Mancuso F, González-Sanchez E, Pérez-Alea M, McGrail K, Hernandez-Losa J, Bodet D, Vivancos A, Garcia-Patos V, Recio J, Genetic Profiles of Squamous Cell Carcinomas Associated with Recessive Dystrophic Epidermolysis Bullosa Unveil NOTCH and TP53 Mutations and an Increased MYC Expression, The Journal of Investigative Dermatology (2018), doi: 10.1016/j.jid.2017.12.026.

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.