Caso Clínico: Linfangioleiomiomatosis en una Paciente Joven con Síndrome de Bourneville

INTRODUCCIÓN: El síndrome de Bourneville o esclerosis tuberosa es una alteración innata del desarrollo que se transmite de forma autosómica dominante, es causada por mutación en los genes TSC1 y TSC2. Se presenta en 1 de cada 6 000 habitantes; se considera una forma rara de facomatosis susceptible de originar tumores benignos en diversas zonas del cuerpo, entre los que se cita: angiomiolipomas renales, tumores del sistema nervioso, retina, corazón, piel y linfangioleiomiomatosis pulmonar; siendo la última una patología pulmonar quística, progresiva, que afecta a las mujeres en edad fértil y puede ser potencialmente mortal. CASO CLÍNICO: Se trata de una paciente de sexo femenino de 23 años de edad, mestiza, con antecedentes de esclerosis tuberosa, hipotiroidismo y nefrectomía izquierda por angiomiolipoma; que presentó un neumotórax espontáneo secundario a linfangioleiomiomatosis pulmonar. EVOLUCIÓN: En base a los antecedentes patológicos, cuadro clínico y estudios de imagen se diagnosticó de linfangioleiomiomatosis pulmonar. Se realizó una pleurodesis y se inició tratamiento con Sirolimus; la respuesta fue satisfactoria, se mantuvieron controles médicos periódicos evaluando la posibilidad de trasplante pulmonar a futuro. CONCLUSIÓN: El neumotórax espontáneo en una mujer joven con esclerosis tuberosa se asocia a linfangioleiomiomatosis pulmonar; en la actualidad esta patología es manejada con Sirolimus, los resultados han sido favorables en la función pulmonar y calidad de vida del paciente; el trasplante pulmonar sigue siendo el tratamiento de elección en la enfermedad avanzada.(au)

BACKGROUND: Bourneville syndrome or tuberous sclerosis is an innate development alteration transmitted by autosomal dominant inheritance. It is caused by TSC1 and TSC2 gene mutations and occurs in 1 of every 6 000 people. It is considered a rare form of phacomatosis that can cause multiple benign tumors including renal angiomyolipomas and tumors of the central nervous system, retina, heart and skin; pulmonary lymphangioleiomyomatosis can be part of the clinical presentation, affects women of childbearing age and can be life-threatening. CASE REPORT: 23 year-old female patient with history of tuberous sclerosis, hypothyroidism and left nephrectomy for angiomyolipoma, who presented a spontaneous pneumothorax secondary to pulmonary lymphangioleiomyomatosis. EVOLUTION: Based on the history, clinical picture and imaging studies; the diagnosis of pulmonary lymphangioleiomyomatosis was made. A pleurodesis was performed and a treatment with Sirolimus was started; the response was satisfactory, periodic controls were maintained evaluating the possibility of lung transplant in the future. CONCLUSION: Spontaneous pneumothorax in a young woman with tuberous sclerosis is associated with pulmonary lymphangioleiomyomatosis. Currently this pathology is managed with Sirolimus, the results have been favorable , improving pulmonary function and quality of life; lung transplantation remains the treatment of choice in advanced disease.(au)

Port-wine stain as a clue for two rare coexisting entities.

Phakomatosis pigmentovascularis (PPV) is an uncommon dermatosis characterised by the presence of both pigmentary and vascular abnormalities.1 Its pathogenesis is not elucidated, and the prognosis is mainly determined by the presence of extracutaneous manifestations, such as Klippel-Trenaunay syndrome (KTS), that is defined by the triad of a port-wine stain (PWS), anomalous veins and progressive overgrowth of the affected extremity. Herein, we report a case of an adult patient, who presented with a large PWS, nevus of Ota, ocular melanosis, and limb hypertrophy and varicosities. These findings represented a rare association of PPV type IIb and KTS.

The case of a boy with nevus of Ota, extensive Mongolian spot, nevus flammeus, nevus anemicus and cutis marmorata telangiectatica congenita: a unique instance of phacomatosis pigmentovascularis.

Phacomatosis pigmentovascularis is a rare, congenital condition characterized by a combination of cutaneous melanocytic lesions and vascular malformation. We discuss an entirely unique case of Phacomatosis pigmentovascularis with nevus of Ota, extensive Mongolian spot, nevus flammeus, nevus anemicus and cutis marmorata telangiectatica congenita, which may represent a heretofore undescribed variant of phacomatosis pigmentovascularis.

The case of a boy with nevus of Ota, extensive Mongolian spot, nevus flammeus, nevus anemicus and cutis marmorata telangiectatica congenita: a unique instance of phacomatosis pigmentovascularis

Phacomatosis pigmentovascularis is a rare, congenital condition characterized by a combination of cutaneous melanocytic lesions and vascular malformation. We discuss an entirely unique case of Phacomatosis pigmentovascularis with nevus of Ota, extensive Mongolian spot, nevus flammeus, nevus anemicus and cutis marmorata telangiectatica congenita, which may represent a heretofore undescribed variant of phacomatosis pigmentovascularis.

Classification of neurological abnormalities in children with congenital melanocytic naevus syndrome identifies magnetic resonance imaging as the best predictor of clinical outcome.

BACKGROUND: The spectrum of central nervous system (CNS) abnormalities described in association with congenital melanocytic naevi (CMN) includes congenital, acquired, melanotic and nonmelanotic pathology. Historically, symptomatic CNS abnormalities were considered to carry a poor prognosis, although studies from large centres have suggested a much wider variation in outcome. OBJECTIVES: To establish whether routine MRI of the CNS is a clinically relevant investigation in children with multiple CMN (more than one at birth), and to subclassify radiological abnormalities. METHODS: Of 376 patients seen between 1991 and 2013, 289 fulfilled our criterion for a single screening CNS MRI, which since 2008 has been more than one CMN at birth, independent of size and site of the largest naevus. Cutaneous phenotyping and radiological variables were combined in a multiple regression model of long-term outcome measures (abnormal neurodevelopment, seizures, requirement for neurosurgery). RESULTS: Twenty-one per cent of children with multiple CMN had an abnormal MRI. Abnormal MRI was the most significant predictor of all outcome measures. Abnormalities were subclassified into group 1 'intraparenchymal melanosis alone' (n = 28) and group 2 'all other pathology' (n = 18). Group 1 was not associated with malignancy or death during the study period, even when symptomatic with seizures or developmental delay, whereas group 2 showed a much more complex picture, requiring individual assessment. CONCLUSIONS: For screening for congenital neurological lesions a single MRI in multiple CMN is a clinically relevant strategy. Any child with a stepwise change in neurological/developmental symptoms or signs should have an MRI with contrast of the brain and spine to look for new CNS melanoma.

Phacomatosis pigmentovascularis type IIa--case report.

Phacomatosis Pigmentovascularis is a rare syndrome characterized by capillary malformation and pigmentary nevus. A case of a 2-year-old patient is reported, who presented extensive nevus flammeus and an aberrant Mongolian spot, without systemic disease, manifestations that allow us to classify this case as type IIa Phacomatosis Pigmentovascularis, according to Hasegawa's classification.

Phacomatosis pigmentovascularis type IIa - case report / Facomatose pigmentovascular tipo IIa - relato de caso

Phacomatosis Pigmentovascularis is a rare syndrome characterized by capillary malformation and pigmentary nevus. A case of a 2-year-old patient is reported, who presented extensive nevus flammeus and an aberrant Mongolian spot, without systemic disease, manifestations that allow us to classify this case as type IIa Phacomatosis Pigmentovascularis, according to Hasegawa's classification.

A Facomatose Pigmentovascular, síndrome rara, é caracterizada pela presença concomitante de malformação capilar e nevos pigmentares. Relata-se o caso de um paciente de dois anos de idade com malformação capilar extensa e mancha mongólica aberrante sem comprometimento sistêmico, manifestações que o incluem no tipo IIa na classificação da Facomatose Pigmentovascular, segundo Hasegawa.

Phacomatosis pigmento-pigmentaria: should we add a new type of phacomatosis? Fact and controversies.

There are currently five types of recognized phacomatosis pigmentovascularis plus one more, phacomatosis pigmentokeratotica, making six types altogether. Should we stop here and consider the classification as being complete? Or, do we leave room to add more types or, alternatively, lump the ones we have together and shorten the list? We present our reasons for adding one or two new types of phacomatoses to the current classification, in full recognition that it is already complicated and somewhat cumbersome. We consider that the benefits of doing so outweigh any additional strain on the already complicated classification. We expect that this might not sit well with some of our colleagues, but we are prepared to do battle.

Phacomatosis melanorosea without extracutaneous features: an unusual type of phacomatosis pigmentovascularis.

Phacomatosis pigmentovascularis (PPV) represents a group of different types of didymosis (twin spotting) characterized by the coexistence of a large pigmentary nevus such as a mongolian spot, café-au-lait macule or macular nevus spilus, and an extensive telangiectatic nevus, such as nevus flammeus or nevus roseus. We describe a third case of phacomatosis melanorosea and discuss the denotation of this neologism.

Epidermal nevi.

Nevi or nests of cells may be made up of a variety of cell types. The cell types that live in the epidermis include epidermal cells or keratinocytes, sebaceous glands, hair follicles, apocrine and eccrine glands, and smooth muscle cells. This article discusses epidermal or keratinocyte nevi, nevus sebaceous, nevus comedonicus, smooth muscle hamartomas, and inflammatory linear verrucous epidermal nevi. Syndromes associated with epidermal nevi are also reviewed.

The group of epidermal nevus syndromes Part II. Less well defined phenotypes.

UNLABELLED: In addition to the well established epidermal nevus syndromes, such as Schimmelpenning, Becker, Proteus, CHILD, or nevus comedonicus syndromes, the group of less well defined phenotypes associated with epidermal nevi presently includes nevus trichilemmocysticus syndrome, didymosis aplasticosebacea, SCALP syndrome (sebaceous nevus, central nervous system malformations, aplasia cutis congenita, limbal dermoid,and pigmented nevus), Gobello syndrome, Bäfverstedt syndrome, NEVADA syndrome (nevus epidermicus verrucosus with angio-dysplasia and aneurysms), and CLOVE syndrome (congenital lipomatous overgrowth, vascular malformations, and epidermal nevus). These syndromes can thus far be regarded as being in limbo. Future clinical and molecular research may show which of these disorders can be added to the list of well defined nosologic entities. LEARNING OBJECTIVES: After completing this learning activity, participants should be able to understand why the list of distinct epidermal nevus syndromes can thus far not be regarded as being complete; why clinicians, when seeing a patient with an epidermal nevus syndrome that is difficult to categorize, should bear in mind the group of less well defined epidermal nevus syndromes; and how practical dermatologists can help recognize rare forms of epidermal nevus syndromes and categorize them appropriately.

Facomatosis pigmentovascularis: revisión y nueva clasificación / Phacomatosis pigmentovascularis: review and new classification

La facomatosis pigmentovascularis es un síndrome infrecuente caracterizado por la asociación de un nevus vascular con un nevus pigmentario. Su etiología es desconocida. Se ha propuesto un modelo genético de didimosis o manchas gemelas. La clasificación previa establece cinco categorías, que a su vez se subdividen en a) cuando existe compromiso cutáneo y b) cuando existe compromiso cutáneo y sistémico. Se ha propuesto una nueva clasificación, más simple, que resume las 10 categorías previas en tres tipos definidos: facomatosis cesioflammea, facomatosis spilorosea y facomatosis cesiomarmorata. Además, agrega un cuarto tipo de FPV no clasificables. Se han descrito asociaciones con otras alteraciones de la piel, oculares, vasculares, neurológicas, inmunológicas y malformaciones, por lo cual es recomendable realizar un examen físico extenso y derivación a especialidades para descartar patologías asociadas. Presentamos el caso de una mujer de 27 años que presenta lesiones correspondientes a una facomatosis cesioflammea en la nueva clasificación.

Phacomatosis pigmentovascularis is an uncommon syndrome characterized by the association of a widespread vascular nevus with a pigmentary nevus. Its etiology is unknown. A twin spotting or didymosis genetic model has been proposed. The previous classification established five categories, further subdivided into a) when cutaneous involvement was present or b) when cutaneous and systemic involvement was present. A new, more straightforward classification has been proposed, which summarizes the ten previous categories into three distinct types: phacomatosis cesioflammea, phacomatosis spilorosea and phacomatosis cesiomarmorata. Furthermore, a fourth category of unclassifiable phacomatosis pigmentovascularis was added. Diverse associations of phacomatosis pigmentovascularis with other skin lesions, malformations, and ocular, vascular, neurological and immunological abnormalities have been described, hence the importance of an extensive physical examination and consultations to discard associated pathologies. We present the case of a 27 year old woman, diagnosed with phacomatosis cesioflammea, based on the new classification.

The phakomatoses: dermatologic clues to neurologic anomalies.

The phakomatoses of particular interest to neurologists including Sturge-Weber syndrome, neurofibromatosis type 1, neurofibromatosis type 2, Bannayan-Riley-Ruvalcaba syndrome, and Proteus syndrome are presented. The physical manifestations required for clinical diagnosis, the neurologic features, and recommendations for management are given. The molecular etiology and genetic aspects of these disorders are briefly discussed as well as future implications of on-going research.