Capillary malformation-arteriovenous malformation syndrome: a multicentre study.

BACKGROUND: Capillary malformation-arteriovenous malformation (CM-AVM) syndrome is a rare syndrome with characteristic skin lesions that are associated with fast-flow vascular malformations (FFVMs) in one-third of patients. Few case series have been described, and none in Spain. AIM: To identify the prevalence of dermatological parameters, FFVMs and associated features in a large series of patients with CM-AVM. METHODS: We conducted an observational study of patients with CM-AVM syndrome diagnosed in 15 Spanish hospitals over 3 years. The main clinical, radiological, genetic findings and associated diseases were analysed. RESULTS: In total, 64 patients were assessed. In 26.5% of cases, the diagnosis was incidental. In 75% of patients, there was one significantly larger macule, which we termed the 'herald patch'. FFVMs were detected in 34% of the patients, with 30% located on the skin, 7.8% in the brain and in 1.5% in the spine. There was a positive family history in 65% of the 64 patients. Genetic analysis was performed for RASA1 mutations in 57 patients, of whom 42 (73%) had a positive result. All 4 patients tested for EPHB4 mutations had a positive result. No tumour lesions were detected in the series, except for five infantile haemangiomas. CONCLUSIONS: Our data on clinical lesions, associated FFVM, family history and genetics are similar to those previously published in the literature. An extensive data analysis failed to demonstrate any statistically significant association between the presence of an FFVM and any clinical, familial or genetic parameter that could predict its onset, although a link between the presence of a herald patch on the midline face and the presence of a brain FFVM was observed. We did not detect any genotype-phenotype correlation.

Histopathological hallmarks of cutaneous lesions of capillary malformation-arteriovenous malformation syndrome.

IMPORTANCE: Capillary malformation-arteriovenous malformation (CM-AVM) syndrome is a recently described syndrome with distinctive cutaneous lesions. Very little is known about the histopathology of these lesions. OBJECTIVE: The purpose of the study was to evaluate the histopathological characteristics of the pink macules of the CM-AVM syndrome and to investigate if these pink macules could be classified as capillary malformations or arteriovenous malformations based on their histopathological features. DESIGN-SETTINGS-PARTICIPANTS: We conducted a retrospective multicenter study involving eight hospitals in Spain. Fifteen biopsies from pink macules of the CM-AVM syndrome were analysed and compared with five biopsies of diverse capillary malformations and three stage I arteriovenous malformations. RESULTS: Pink macules' biopsies of the CM-AVM syndrome showed similar features including a high vascular density encompassing capillaries and numerous thick-walled arterioles mainly located in the superficial dermis, a predominance of elongated over round vessels, scarce or absent erythrocytes within the lumina and discrete perivascular inflammation. CMs were characterized by an increased number of capillary-type vessels mostly rounded and located in the upper dermis. AVMs were composed by highly increased numbers of vessels with a branching pattern involving the full thickness of the dermis, without erythrocytes within the lumina. Wilms tumour 1 protein was positive in the endothelial cells both in pink macules of the CM-AVM and in arteriovenous malformations. CONCLUSIONS AND RELEVANCE: Pink macules of the CM-AVM syndrome seem to be different from capillary malformations. Our results suggest that histologically and immunohistochemically they are closer to incipient arteriovenous malformations than to capillary malformations. A deepened knowledge about the nature of these skin lesions will contribute to the better understanding of capillary malformation-arteriovenous malformation syndrome, and will open the possibility of new and more specific treatments in the future.

Dermatofibrosarcoma protuberans en la infancia / Dermatofibrosarcoma Protuberans in Childhood

El dermatofibrosarcoma protuberans es un tumor fibrohistiocitario de grado intermedio de malignidad, muy infrecuente en la infancia, con tan solo un 6% de estos tumores diagnosticados en la edad pediátrica. El diagnóstico clínico en los estadios iniciales es muy difícil, pero es necesario realizarlo lo más precozmente posible, así como excluir otros procesos benignos que son más frecuentes en la infancia para asegurar un tratamiento correcto. Tanto la presentación clínica como la histopatología y las anomalías moleculares en los niños son similares a las que encontramos en los adultos. Sin embargo, el diagnóstico inicial es más difícil y requiere un alto índice de sospecha por parte del dermatólogo. La ausencia de rasgos característicos, junto a la rareza de este cuadro, conducen en muchas ocasiones a un retraso en el diagnóstico. Es muy importante realizar una extirpación quirúrgica completa del tumor para reducir el riesgo de recidiva. Este artículo proporciona una revisión de los actuales conocimientos y opciones terapéuticas más novedosas en el manejo del dermatofibrosarcoma protuberans infantil (AU)

Dermatofibrosarcoma protuberans (DFSP) is a fibrohistiocytic tumor of intermediate malignancy that is very rare in childhood. Only 6% of these tumors present in children. Clinical diagnosis is very difficult in the early stages of disease, but to ensure appropriate treatment it is important to identify DFSP as early as possible and rule out benign conditions that are more common at this age. The clinical presentation and histopathologic and molecular characteristics of DFSP are similar in children and adults. Clinical diagnosis is, however, more difficult in children and requires a high degree of suspicion. The absence of characteristic features and the rarity of this tumor explain why diagnosis is often delayed. Complete surgical excision of the tumor is very important to reduce the risk of recurrence. This article presents a review of current knowledge about the management of DFSP in children and examines the latest treatment options (AU)

Dermatofibrosarcoma protuberans in childhood.

Dermatofibrosarcoma protuberans (DFSP) is a fibrohistiocytic tumor of intermediate malignancy that is very rare in childhood. Only 6% of these tumors present in children. Clinical diagnosis is very difficult in the early stages of disease, but to ensure appropriate treatment it is important to identify DFSP as early as possible and rule out benign conditions that are more common at this age. The clinical presentation and histopathologic and molecular characteristics of DFSP are similar in children and adults. Clinical diagnosis is, however, more difficult in children and requires a high degree of suspicion. The absence of characteristic features and the rarity of this tumor explain why diagnosis is often delayed. Complete surgical excision of the tumor is very important to reduce the risk of recurrence. This article presents a review of current knowledge about the management of DFSP in children and examines the latest treatment options.

Síndrome de Peutz-Jeghers / Peutz-Jeghers syndrome

Presentamos el caso de un niño de 6 años de edad con lesioneshiperpigmentadas en la región perioral. El padre del pacientehabía sido diagnosticado de síndrome de Peutz-Jeghers (SPJ)mediante un estudio genético. Las lesiones cutáneas, junto conlos antecedentes familiares, fueron la clave para el diagnósticotemprano de la enfermedad. El SPJ es una entidad rara, caracterizadapor la aparición de lentigos periorificiales y póliposgastrointestinales. Histológicamente, estos pólipos son hamartomasque pueden llegar a malignizarse. Además, el SPJ seasocia al desarrollo de tumores extraintestinales (mama, endometrio,ovario, testículo, páncreas...). Por ello, es necesariorealizar un diagnóstico precoz y un control periódico de laspersonas que padecen este síndrome y sus familiares(AU)

We report the case of a 6-year-old child with hyperpigmentedlesions in perioral region. His father had been diagnosed ofPeutz-Jeghers syndrome (PJS) by genetic testing. PJS is a rareentity characterized by the presence of hyperpigmented periorificiallesions and gastrointestinal polyps. Histologically, thesepolyps are hamartomas that can become malignant. Moreover,PJS is associated with the development of nongastrointestinalcancer (breast, endometrium, ovary, testicle, pancreas...). It istherefore necessary to make an early diagnosis and periodicmonitoring of the patients with this syndrome and their families(AU)

Dermatofibrosarcoma Protuberans in Childhood. / Dermatofibrosarcoma protuberans en la infancia.

Dermatofibrosarcoma protuberans (DFSP) is a fibrohistiocytic tumor of intermediate malignancy that is very rare in childhood. Only 6% of these tumors present in children. Clinical diagnosis is very difficult in the early stages of disease, but to ensure appropriate treatment it is important to identify DFSP as early as possible and rule out benign conditions that are more common at this age. The clinical presentation and histopathologic and molecular characteristics of DFSP are similar in children and adults. Clinical diagnosis is, however, more difficult in children and requires a high degree of suspicion. The absence of characteristic features and the rarity of this tumor explain why diagnosis is often delayed. Complete surgical excision of the tumor is very important to reduce the risk of recurrence. This article presents a review of current knowledge about the management of DFSP in children and examines the latest treatment options.

Actitud expectante como tratamiento eficaz en un caso de múltiples lesiones por «Molluscum contagiosum» / Attitude expectant as effective treatment in Molluscum contagiosum

El molusco contagioso es una infección cutánea frecuente causada por un virus de la familia de los poxvirus, que afecta principalmente a los niños. La enfermedad puede transmitirse por contacto directo a través de la piel, por fómites contaminados o por autoinoculación. La infección se resuelve habitualmente de forma espontánea en pacientes inmunocompetentes, en un tiempo que puede oscilar entre meses y años. Existe un debate continuo sobre si se debe tratar activamente o mantener una actitud expectante(AU)

Molluscum contagiosum is a common skin infection, caused by a poxvirus, that affect mainly children. The disease can be transmitted by direct contact, fomites, or auto-inoculation. The infection will usually resolve within months or years in people with normal immunity. There has been a continous discussion about whether physicians should treat Molluscum contagiosum actively or not(AU)

Tiña diseminada / Disseminated tinea

La tiña corporal es una infección superficial producida por dermatofitos. Es la segunda tiña en frecuencia en la infancia, tras la tiña del cuero cabelludo. Puede diseminarse y producir lesiones a distancia si no es tratada a tiempo. El origen de la infección suelen ser los animales domésticos. El tratamiento es tópico, salvo cuando aparecen múltiples lesiones o si asocia una afectación de las áreas pilosas, en cuyo caso el tratamiento de elección es por vía oral. La griseofulvina y la terbinafina son los antimicóticos orales más empleados en la actualidad(AU)

Tinea corporis is a superficial infection caused by dermatophytes. It is the second most common tinea in childhood after the ringworm of the scalp. It may spread and cause distant lesions if not treated on time. Pets are usually on the origin of the infection. Topical treatment is sufficient except when multiple lesions appear or in case of involvement of hairy areas. In those circumstances, oral treatment is appropiate. Griseofulvin and terbinafine are the most commonly used systemic treatments(AU)

Síndrome del pelo impeinable / Uncombable hair syndrome

El síndrome del pelo impeinable es una anomalía infrecuente del tallo piloso, que determina la presencia de un pelo desorganizado y difícil de peinar. Esta entidad se caracteriza por la presencia de un surco longitudinal a lo largo del tallo piloso y una forma triangular en la sección transversal(AU)

Uncombable hair syndrome is a rare anomaly of the hair shaft that results in a disorganized, unruly hair pattern that it is impossible to comb flat. This condition has a characteristic longitudinal groove along the hair shaft and a triangular cross-section(AU)

Hamartoma congénito de músculo liso / The congenital smooth muscle hamartoma

El hamartoma congénito de músculo liso es una malformación cutánea benigna poco frecuente. Se trata de una acumulación hamartomatosa de las fibras musculares lisas provenientes de los músculos erectores del pelo. Está presente al nacimiento, habitualmente en forma de una placa indurada solitaria, con un grado variable de hiperpigmentación e hipertricosis. Puede persistir indefinidamente, aunque existe cierta tendencia a hacerse menos notoria con el tiempo. No suele requerir ningún tratamiento (AU)

The congenital smooth muscle hamartoma is a rare benign cutaneous malformation. It is a hamartomatous accumulation of the smooth muscular fibers from the hair erecting muscles. It usually exists since birth in the shape of solitary hardened plaque, with a variable degree of hyper pigmentation and hypertrichosis. It may persist indefinitely, though certain tendency exists of becoming less notorious with time. It usually does not need of any treatment (AU)

Piebaldismo / Piebaldism

El piebaldismo es una enfermedad infrecuente, autosómicadominante, que se caracteriza por la presencia desde el nacimientode poliosis y de máculas despigmentadas blanquecinaslocalizadas en la línea media frontal, el tórax, el abdomen y lasextremidades, donde no se encuentran melanocitos.Se ha relacionado con mutaciones inactivadoras o delecionesen el gen c-Kit, que provocan una disminución de la señaldel receptor tirosina-cinasa. Estas mutaciones impiden el correctodesarrollo de los melanoblastos y su posterior migracióndesde la cresta neural hacia su ubicación definitiva(AU)

Piebaldism is an autosomal dominant rare disease characterizedby the presence since birth of poliosis and congenitaldepigmentation white patches on the mid-forehead, chest, abdomenand extremities, where no melanocytes are found.It has been linked to inactivating mutations or deletions ofthe c-Kit gene. These mutations result in a decrease of the receptortyrosine kinase signalling. These mutations do not allowthe correct development of the melanoblast and the posteriormigration from the neural crest to a definitive site(AU)

Morfea lineal / Linear morphea

La morfea es una enfermedad del tejido conjuntivo poco frecuente en la población pediátrica. Sin embargo, la forma conocida como «morfea lineal» aparece con mayor frecuencia en los niños y puede ocasionar alteraciones funcionales, contracturas articulares, deformidad y manifestaciones neurológicas. Su diagnóstico suele retrasarse por la falta de sospecha clínica, lo que dificulta el tratamiento. Tampoco existe consenso en cuanto a los criterios terapéuticos, la forma de tratamiento y su duración, debido a su baja incidencia, su carácter autolimitado y la falta de marcadores estandarizados de la actividad. Presentamos un caso de morfea lineal y revisamos la bibliografía(AU)

Morphea is an uncommon disease of the connective tissue in the pediatric population. However, the form known as linear morphea occurs more frequently in children and might cause functional alterations, joints spasm, deformity and neurological sign. Its diagnosis usually is not immediate, due to the lack of clinical suspicion, what causes difficulty in the treatment. No consensus exists about the therapeutic criteria, the form and duration of the before mentioned, due to its low incidence, its auto limited character and the lack of standardized markers of the activity. We show a case of linear morphea and we review the bibliography(AU)

Hamartoma fibrolipomatoso congénito / Precalcaneal congenital fibrolipomatous hamartoma

El hamartoma fibrolipomatoso congénito precalcáneo es una entidad de la infancia de naturaleza benigna, que aparece en el nacimiento o unos meses después, en forma de una lesión nodular, unilateral o, más frecuentemente, bilateral y simétrica, en la parte posteromedial de los talones. Normalmente son lesiones asintomáticas y no se asocian otras alteraciones. Habitualmente no es necesario realizar ningún tratamiento(AU)

The precalcaneal congenital fibrolipomatous hamartoma is a benign condition of infancy present at birth or appearing a few months later, as a solitary nodule, unilateral or most commonly bilateral and symmetrical in the medial posterior region of the heels. They are usually asymptomatic and not associated with any other alterations. Usually no treatment is required(AU)

Penfigoide ampolloso infantil en relación con la vacunación hexavalente, meningococo y neumococo / Infantile bullous pemphigoid developing after hexavalent, meningococcal and pneumococcal vaccinations

El penfigoide ampolloso es una enfermedad ampollosa adquirida, autoinmunitaria, extremadamente infrecuente en los niños, que se caracteriza por la presencia de anticuerpos IgG dirigidos contra antígenos de la zona de la membrana basal. En general, el curso clínico de esta entidad es muy bueno y no presenta recaídas. El diagnóstico y el tratamiento precoces son fundamentales. Presentamos el caso clínico de una lactante de 3 meses con aparición de lesiones ampollosas en ambas palmas y plantas, y lesiones urticariformes en el tronco y la cara 3 semanas después de la vacunación de los 2 meses (hepatitis B, difteria, tétanos, tos ferina, poliomielitis, Haemophilus influenzae B, meningococo C y neumococo). La clínica empeoró con la vacunación a los 4 y 6 meses de edad. Con deflazacort por vía oral a dosis de 1 mg/kg/día se controlaron las lesiones, interrumpiéndose el tratamiento de forma progresiva a los 3 meses. Tras 8 meses de seguimiento, la niña no ha presentado recidivas. El penfigoide ampolloso se ha relacionado con la ingesta de fármacos y con las vacunaciones, apareciendo las lesiones de 1 día a 4 semanas después. Aunque el mecanismo etiopatogénicono está demostrado, se aporta un caso con una relación clara con la vacunación (AU)

Bullous pemphigoid is an acquired autoimmune blistering disorder extremely uncommon in children, characterized by circulating IgG antibodies to antigens of the epidermal basement membrane zone. In general, the clinical course of this condition is good and relapses are rare. The early diagnosis and treatment are fundamental. We present a 3-month-old girl with a blistering eruption on her palms and soles, and urticarial plaques on trunk, and face, 3 weeks after vaccine at two months (hepatitis B, diphtheria, tetanus, pertussis, polio, Haemophilus influenzae B, meningococcal C, pneumococcus). The clinical course worsened with vaccinations at 4 and 6 months. The control of lesions was achieved with oral deflazacort 1 mg/kg/day, with a gradual decrease until 3 months of therapy. The patient is still in remission after 8 months of follow-up. Bullous pemphigoid has been connected with some drugs and vaccinations, 1 day to 4 weeks after receiving immunization. Although the exact mechanism of induction is unclear, this case report has a visible relationship with vaccinations (AU)

Chancro primario en tórax / Primary Chancre on the Chest Wall

No disponible

[Infantile bullous pemphigoid developing after hexavalent, meningococcal and pneumococcal vaccinations]. / Penfigoide ampolloso infantil en relación con la vacunación hexavalente, meningococo y neumococo.

Bullous pemphigoid is an acquired autoimmune blistering disorder extremely uncommon in children, characterized by circulating IgG antibodies to antigens of the epidermal basement membrane zone. In general, the clinical course of this condition is good and relapses are rare. The early diagnosis and treatment are fundamental. We present a 3-month-old girl with a blistering eruption on her palms and soles, and urticarial plaques on trunk, and face, 3 weeks after vaccine at two months (hepatitis B, diphtheria, tetanus, pertussis, polio, Haemophilus influenzae B, meningococcal C, pneumococcus). The clinical course worsened with vaccinations at 4 and 6 months. The control of lesions was achieved with oral deflazacort 1 mg/kg/day, with a gradual decrease until 3 months of therapy. The patient is still in remission after 8 months of follow-up. Bullous pemphigoid has been connected with some drugs and vaccinations, 1 day to 4 weeks after receiving immunization. Although the exact mechanism of induction is unclear, this case report has a visible relationship with vaccinations.