Familial Progressive Hyperpigmentation, Cutaneous Mastocytosis, and Gastrointestinal Stromal Tumor as Clinical Manifestations of Mutations in the c-KIT Receptor Gene.

BACKGROUND: Familial progressive hyperpigmentation (FPH) is an autosomal dominant disorder characterized by the appearance of hyperpigmented patches on the skin from early infancy that increase in size and number with age. METHODS: We report the clinical and molecular studies of an 11-year-old boy who had areas of hyperpigmentation since birth that had spread across his body as irregular hyperpigmented macules and papules, and include relevant history in family members. RESULTS: Affected members of his family shared a mutation in the c-KIT gene. All had progressive hyperpigmentation, in some cases accompanied by gastrointestinal stromal tumors and mastocytoma. There have been few reports of familial progressive hyperpigmentation together with systemic manifestations. CONCLUSIONS: Molecular analysis of c-KIT should be considered in the presence of FPH with systemic involvement.

Hypertrichosis cubiti: another case of a well-recognized but under-reported entity.

Hypertrichosis cubiti, also named hairy elbows syndrome, is an uncommon variety of congenital, circumscribed hypertrichosis with a remarkable amount of long vellous hair localized on the extensor surfaces of the upper extremities. It may appear both as a familial or sporadic form. In most patients, it is not associated with any other physical anomalies, although short stature and other development disorders have been described. We report a case occurring sporadically in a 5-year-old girl without associated abnormalities, and with a negative family history.

[Acneiform eruption from epidermal growth factor receptor inhibitors]. / Erupción acneiforme por inhibidores del receptor de crecimiento epidérmico.

One of the fundamental aims of oncological research is the search for molecules with greater efficacy against tumors and less toxicity than the usual chemotherapeutic agents. Epidermal growth factor receptor inhibitors are a new group of drugs which, because of their more specific effect against neoplastic cells, seem to meet these characteristics. Skin eruptions are one of the most frequent adverse effects associated with their use, secondary to the drug's direct inhibitory effect on homeostasis of the epidermis and of the pilosebaceous follicle. Several cases of cutaneous toxicity in patients treated with epidermal growth factor receptor inhibitors have recently been published. We present three cases of acneiform eruptions attributable to different drugs in this family (cetuximab, gefitinib and erlotinib).

Un caso de liquen plano asociado a tratamiento con imatinib / A case of lichen planus associated to treatment with imatinib

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Erupción acneiforme por inhibidores del receptor de crecimiento epidérmico / Acneiform eruption from epidermal growth factor receptor inhibitors

Uno de los objetivos fundamentales de la investigación oncológica es la búsqueda de moléculas con mayor eficacia antitumoral y menor toxicidad que los agentes quimioterápicos habituales. Los inhibidores del receptor de crecimiento epidérmico son un nuevo grupo de fármacos que, por su efecto más específico frente a las células neoplásicas, parecen cumplir estas características. Entre los efectos adversos asociados a su uso, destacan por su frecuencia las erupciones cutáneas, secundarias a un efecto inhibitorio directo del fármaco sobre la homeostasis de la epidermis y del folículo pilosebáceo 1,2. Recientemente se han publicado varios casos de toxicidad cutánea en pacientes tratados con inhibidores del receptor de crecimiento epidérmico. Presentamos 3 casos de erupciones acneiformes atribuibles a diferentes fármacos de esta familia (cetuximab, gefitinib y erlotinib)

One of the fundamental aims of oncological research is the search for molecules with greater efficacy against tumors and less toxicity than the usual chemotherapeutic agents. Epidermal growth factor receptor inhibitors are a new group of drugs which, because of their more specific effect against neoplastic cells, seem to meet these characteristics. Skin eruptions are one of the most frequent adverse effects associated with their use, secondary to the drug's direct inhibitory effect on homeostasis of the epidermis and of the pilosebaceous follicle. Several cases of cutaneous toxicity in patients treated with epidermal growth factor receptor inhibitors have recently been published. We present three cases of acneiform eruptions attributable to different drugs in this family (cetuximab, gefitinib and erlotinib)