ABSTRACT
Capillary malformation-arteriovenous malformation (CM-AVM) is an autosomal-dominant disorder, caused by heterozygous RASA1 mutations, and manifesting multifocal CMs and high risk for fast-flow lesions. A limited number of patients have been reported, raising the question of the phenotypic borders. We identified new patients with a clinical diagnosis of CM-AVM, and patients with overlapping phenotypes. RASA1 was screened in 261 index patients with: CM-AVM (n = 100), common CM(s) (port-wine stain; n = 100), Sturge-Weber syndrome (n = 37), or isolated AVM(s) (n = 24). Fifty-eight distinct RASA1 mutations (43 novel) were identified in 68 index patients with CM-AVM and none in patients with other phenotypes. A novel clinical feature was identified: cutaneous zones of numerous small white pale halos with a central red spot. An additional question addressed in this study was the "second-hit" hypothesis as a pathophysiological mechanism for CM-AVM. One tissue from a patient with a germline RASA1 mutation was available. The analysis of the tissue showed loss of the wild-type RASA1 allele. In conclusion, mutations in RASA1 underscore the specific CM-AVM phenotype and the clinical diagnosis is based on identifying the characteristic CMs. The high incidence of fast-flow lesions warrants careful clinical and radiologic examination, and regular follow-up.
Subject(s)
Arteriovenous Malformations/diagnosis , Arteriovenous Malformations/genetics , Capillaries/abnormalities , Mutation , Phenotype , Port-Wine Stain/diagnosis , Port-Wine Stain/genetics , p120 GTPase Activating Protein/genetics , Amino Acid Substitution , DNA Mutational Analysis , Female , Gene Order , Genetic Association Studies , Humans , Male , Prospective Studies , Retrospective StudiesABSTRACT
Levamisole is an antihelmintic drug that stimulates antibodies formation increasing both T response, and neutrophilic response, and quimiotaxis. It is used in dermatology for the treatment of plane warts, erythema multiforme, aphtous ulcers and, with prednisone, in lichen planus. With prolonged use this drug has been implicated in adverse dermatological reactions as lichenoid eruptions, ulcers and vasculitis. We present a 9-years old girl who developed a cutaneous eruption and a reverse leucoencephalopathy with a short treatment but high doses of the drug.
Subject(s)
Drug Eruptions/complications , Drug Eruptions/etiology , Levamisole/adverse effects , Posterior Leukoencephalopathy Syndrome/chemically induced , Posterior Leukoencephalopathy Syndrome/complications , Child , Female , Humans , Skin Diseases/drug therapy , Warts/drug therapyABSTRACT
An 8-year-old mentally retarded boy had paired segmental areas of hyper- and hypopigmentation on the left side of his body in association with cutis marmorata telangiectatica congenita (CMTC) involving the trunk and the limbs, with the exception of parts of his right arm. At the age of 4 years, an aneurysmatic nodular lesion developed in the angle of his right elbow, and subsequently two similar lesions emerged on his forehead and scalp. Moreover, a dysmorphic facial appearance, scoliosis, genu valgum, talipes planus and increased laxity of joints were noted. The coexistence of paired achromic and melanotic macules in the form of "cutis tricolor" with CMTC can be categorized as an unusual example of phacomatosis pigmentovascularis (PPV). This combination differs from all other types of PPV so far known, which is why we propose the new term "phacomatosis achromico-melano-marmorata". Future clinical research may show whether analogous "simple" twin-spot phenotypes in the form of "phacomatosis melanomarmorata" or "phacomatosis achromicomarmorata" do likewise exist.
Subject(s)
Hyperpigmentation , Hypopigmentation , Intellectual Disability , Neurocutaneous Syndromes/diagnosis , Child , Humans , Male , SyndromeABSTRACT
Levamisol es una droga antihelmíntica con propiedades inmunomoduladoras que estimula la formación de anticuerpos y aumenta la respuesta T, la respuesta neutrofílica y laquimiotaxis. Se utiliza en dermatología para el tratamiento de verrugas planas, eritema multiforme, úlceras aftosas, vitíligo y,conjuntamente con prednisolona, en el liquen plano.Con el uso prolongado del medicamento se han comunicadoefectos adversos dermatológicos, como erupciones liquenoides,ulceraciones y vasculitis.Comunicamos el caso de una niña de 9 años que desarrolló uncuadro de erupción cutánea y leucoencefalopatía reversible con un tratamiento breve de levamisol pero con dosis elevadas.
Levamisole is an antihelmintic drug that stimulates antibodies formation increasing both T response, and neutrophilic response, and quimiotaxis. It is used in dermatology for the treatment of plane warts, erythema multiforme, aphtous ulcers and, with prednisone, in lichen planus. With prolonged use this drug has been implicated in adverse dermatological reactions as lichenoid eruptions, ulcers and vasculitis. We present a 9-years old girl who developed a cutaneous eruption and a reverse leucoencephalopathy with a short treatment but high doses of the drug.
Subject(s)
Child , Levamisole/adverse effects , Levamisole/therapeutic use , Seizures , WartsABSTRACT
Levamisol es una droga antihelmíntica con propiedades inmunomoduladoras que estimula la formación de anticuerpos y aumenta la respuesta T, la respuesta neutrofílica y laquimiotaxis. Se utiliza en dermatología para el tratamiento de verrugas planas, eritema multiforme, úlceras aftosas, vitíligo y,conjuntamente con prednisolona, en el liquen plano.Con el uso prolongado del medicamento se han comunicadoefectos adversos dermatológicos, como erupciones liquenoides,ulceraciones y vasculitis.Comunicamos el caso de una niña de 9 años que desarrolló uncuadro de erupción cutánea y leucoencefalopatía reversible con un tratamiento breve de levamisol pero con dosis elevadas.(AU)
Levamisole is an antihelmintic drug that stimulates antibodies formation increasing both T response, and neutrophilic response, and quimiotaxis. It is used in dermatology for the treatment of plane warts, erythema multiforme, aphtous ulcers and, with prednisone, in lichen planus. With prolonged use this drug has been implicated in adverse dermatological reactions as lichenoid eruptions, ulcers and vasculitis. We present a 9-years old girl who developed a cutaneous eruption and a reverse leucoencephalopathy with a short treatment but high doses of the drug.(AU)
Subject(s)
Child , Levamisole/adverse effects , Levamisole/therapeutic use , Warts , SeizuresABSTRACT
Nevus psiloliparus is a distinct type of mesodermal nevus of the scalp characterized by absence or paucity of hair, and presence of an excessive amount of fatty tissue. It is considered a hallmark of encephalocraniocutaneous lipomatosis, a rare disorder comprising a variety of cutaneous, ophthalmologic, and neurologic defects. We report two infants with encephalocraniocutaneous lipomatosis with nevus psiloliparus on the scalp in close association with aplasia cutis congenita. This unusual association may be considered a further example of didymosis, for which we propose the term, didymosis aplasticopsilolipara.
Subject(s)
Adipose Tissue , Ectodermal Dysplasia/diagnosis , Nevus/diagnosis , Scalp Dermatoses/diagnosis , Alopecia/etiology , Diagnosis, Differential , Ectodermal Dysplasia/complications , Female , Humans , Infant , Male , Nevus/complications , Nevus/congenital , Scalp Dermatoses/complications , Scalp Dermatoses/congenitalABSTRACT
Two siblings with familial cutaneous collagenoma syndrome had the essential clinical features of multiple skin-colored nodules on the trunk and upper arms. On light microscopy, histopathologic findings included excessive accumulation of dense, coarse collagen in the dermis. Elastic tissue stains demonstrated a proportionately diminished number of abnormal elastic fibers intermingled with the collagen bundles. A predominance of densely packed collagen bundles of normal morphology with a marked decrease in abnormal elastic tissue were the major ultrastructural features. The diagnosis was therefore confirmed to be connective tissue nevi of the collagen type. The differential diagnosis of connective tissue nevi disorders is delineated.
Subject(s)
Connective Tissue Diseases/pathology , Skin Diseases/pathology , Child , Connective Tissue Diseases/genetics , Diagnosis, Differential , Hamartoma/pathology , Humans , MaleABSTRACT
Niña de 10 años de edad, de raza indo-americana, con placas verrugosas orales de siete meses de evolución. El diagnóstico clínico de hiperplasia epitelial focal fue confirmado por microscopía electrónica. Se realiza la descripción de esta patología frecuente en comunidades indígenas de bajo nivel socioeconómico y su diagnóstico diferencial con otras patologías orales clínicamente similares
Subject(s)
Humans , Female , Focal Epithelial Hyperplasia/diagnosis , Dry Ice/therapeutic use , Focal Epithelial Hyperplasia/pathology , Focal Epithelial Hyperplasia/therapyABSTRACT
Niña de 10 años de edad, de raza indo-americana, con placas verrugosas orales de siete meses de evolución. El diagnóstico clínico de hiperplasia epitelial focal fue confirmado por microscopía electrónica. Se realiza la descripción de esta patología frecuente en comunidades indígenas de bajo nivel socioeconómico y su diagnóstico diferencial con otras patologías orales clínicamente similares (AU)
Subject(s)
Humans , Female , Focal Epithelial Hyperplasia/diagnosis , Focal Epithelial Hyperplasia/pathology , Focal Epithelial Hyperplasia/therapy , Dry Ice/therapeutic useABSTRACT
La paquidermodactilia (PDD) es una forma rara de fibromatosis superficial benigna de los dedos de la mano, que afecta a hombres jóvenes, caracterizada por engrosamiento fusiforme de tejidos blandos de las superficies dorsal y principalmente lateral de las articulaciones interfalángicas proximales de los dedos de las manos. El objetivo de este trabajo es presentar el estudio clínico e histopatológico de una niña con paquidermodactilia asociada a porfiria cutánea tarda (PCT). Según la bibliografía consultada, dicha asociación no ha sido previamente reportada
Subject(s)
Humans , Female , Fibroma/diagnosis , Fingers/pathology , Porphyria Cutanea Tarda/complications , Fibroma/complications , Fibroma/physiopathology , Keratoderma, Palmoplantar/diagnosisABSTRACT
La paquidermodactilia (PDD) es una forma rara de fibromatosis superficial benigna de los dedos de la mano, que afecta a hombres jóvenes, caracterizada por engrosamiento fusiforme de tejidos blandos de las superficies dorsal y principalmente lateral de las articulaciones interfalángicas proximales de los dedos de las manos. El objetivo de este trabajo es presentar el estudio clínico e histopatológico de una niña con paquidermodactilia asociada a porfiria cutánea tarda (PCT). Según la bibliografía consultada, dicha asociación no ha sido previamente reportada (AU)
Subject(s)
Humans , Female , Fingers/pathology , Fibroma/diagnosis , Porphyria Cutanea Tarda/complications , Fibroma/complications , Fibroma/physiopathology , Keratoderma, Palmoplantar/diagnosisABSTRACT
La vasculitis hialinizante segmentaria(atrofia blanca)es una forma de livedo reticular con episodios de úlceras que dejan áreas atróficas rodeadas con halos telangiectásicos pigmentados.Se presenta generalmente en mujeres de mediana edad.Nosotros describimos una niña de 12 años con vasculitis hialinizante segmentaria.La inusual presentación de esta entidad nos motivó a la publicación de este caso
Subject(s)
Adolescent , Pigmentation Disorders , Thrombosis/diagnosis , Thrombosis/therapy , Vasculitis/diagnosis , Vasculitis/therapyABSTRACT
La vasculitis hialinizante segmentaria(atrofia blanca)es una forma de livedo reticular con episodios de úlceras que dejan áreas atróficas rodeadas con halos telangiectásicos pigmentados.Se presenta generalmente en mujeres de mediana edad.Nosotros describimos una niña de 12 años con vasculitis hialinizante segmentaria.La inusual presentación de esta entidad nos motivó a la publicación de este caso
Subject(s)
Adolescent , Vasculitis/diagnosis , Vasculitis/therapy , Thrombosis/diagnosis , Thrombosis/therapy , Pigmentation DisordersABSTRACT
Se presenta un recién nacido con necrosis de la grasa subcutánea,a posteriori de cirugía de ano imperforado.La revisión de la literatura demuestra la existencia de dificultades perinatales en los casos publicados.Determinaciones seriadas de calcio no pudieron demostrar hipercalcemia asociada en nuestra observación.Todas las lesiones se resolvieron con fibrosis residual.En algunas de ellas a los cuatro meses.Se discutenlas distintas paniculitis infantiles.Apoyamos la teoría de que diversas causas pueden desencadenar esta patología en niños con defectos en la composición y/o metabolismo graso
Subject(s)
Infant, Newborn , Adipose Tissue , Fat Necrosis , Panniculitis , PediatricsABSTRACT
Se presenta un recién nacido con necrosis de la grasa subcutánea,a posteriori de cirugía de ano imperforado.La revisión de la literatura demuestra la existencia de dificultades perinatales en los casos publicados.Determinaciones seriadas de calcio no pudieron demostrar hipercalcemia asociada en nuestra observación.Todas las lesiones se resolvieron con fibrosis residual.En algunas de ellas a los cuatro meses.Se discutenlas distintas paniculitis infantiles.Apoyamos la teoría de que diversas causas pueden desencadenar esta patología en niños con defectos en la composición y/o metabolismo graso
