Facomatosis pigmentovascular tipo cesioflammea: a propósito de un caso / Phakomatosis pigmentovascularis cesioflammea: a case report

La facomatosis pigmentovascular es un síndrome caracterizado por la coexistencia de malformación vascular capilar con una lesión pigmentada cutánea congénita (nevo epidérmico, nevo spilus o melanocitosis dérmica). Existen diversos grupos de facomatosis pigmentovascular que dependen del tipo de nevo asociado a la lesión vascular. Los pacientes pueden presentar solo la afección cutánea o tener manifestaciones sistémicas, entre ellas, traumatológicas, neurológicas y oftalmológicas. Se expone el caso de una niña de un año de edad, con antecedentes de glaucoma congénito. Además, presentaba parálisis facial, melanosis ocular bilateral, malformación vascular capilar en la hemicara al igual que en el hemicuerpo izquierdo y mancha mongólica aberrante en la región dorsal superior, la zona lumbosacra y ambos glúteos. Debido a las manifestaciones clínicas cutáneas, se diagnosticó facomatosis pigmentovascular y se solicitó una evaluación neurológica y traumatológica, además de continuar con controles oftalmológicos. Los estudios complementarios son importantes para detectar alteraciones extracutáneas, como se presentaron en esta paciente.

Phakomatosis pigmentovascularis (PPV) is a syndrome characterized by the association of a vascular nevus with a congenital pigmented lesion (epidermal nevus, nevus spilus, and dermal melanocytosis). There are different types of PPV according to the pigmentary nevus associated with the vascular malformation. Patients may present only the cutaneous condition or have systemic manifestations, among them, trauma, neurological and ophthalmological disorders. We report the case of a 1-year-old girl who had congenital glaucoma. On examination, we identified facial paralysis, bilateral ocular melanosis, segmental capillary vascular malformation on the face as on left trunk and extremities, and aberrant Mongolian spots on the upper back, lumbosacral area and buttocks. Due to clinical manifestation, the diagnosis of PPV was made. The patient was evaluated by Neurology, Traumatology and keeps on with ophthalmological controls. Complementary studies are important, to rule out extracutaneous manifestations in PPV.

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.

An Associated Case of Common Blue Nevus with Satellite Lesions and Ectopic Mongolian Spot / 대한피부과학회지

No abstract available.

Extensive Mongolian Spots Associated with Hunter Syndrome / 대한피부과학회지

We report a case of Hunter syndrome with extensive Mongolian spots. A 4-year-old male baby presented with asymptomatic, firm, raised, ivory-colored papules and nodules which coalesced to form ridges in a reticular pattern (pebbling of the skin) and were arranged bilaterally and symmetrically over the scapulae, and lateral aspects of the thighs. Large Mongolian spots were present over the back. He has low intelligence, short stature, a protuberant abdomen with hepatosplenomegaly, and broad hands with clawlike contractures of the distal interphalangeal joints. The result of qualitative analysis of mucopolysaccharride was positive for the dermatan sulfate and heparan sulfate in the urine. Massive mucinous materials which stained positively with alcian blue were observed from collagen fibers throughout the dermis of skin biopsy specimen. Metachromatic granules within fibroblasts stained with toluidine blue were also seen. This case is reported for its rarity and the typical skin lesions, the recognition of which may be helpful in diagnosis and genetic counselling.

A Case of Dermal Melanocytosis with Various Morphological Forms / 대한피부과학회지

Dermal melanocytosis is characterized by the presence of ectopic melanocytes in the dermis and shows several morphological forms, including the mongolian spot, the blue nevus, the nevus of Ota, the nevus of Ito, and dermal melanocyte hamartoma. A 30-month-old boy had a gray blue patch on the left deltoid region, upper back, sacral area, the entire length of the right arm, and right hand. There was a bluish speckled patch on the right palm. The lesions were present at birth, and no appreciable change in appearance had occurred. He also had blue to brownish pigmentation on the right side of his face with dark bluish pigmentation of the right sclera. His Mental and physical development had been normal. The histopathological examination revealed dendritic dermal melanocytes, mainly in the upper and mid dermis. Clinically and pathologically, the patient was diagnosed as having Ota nevus, Ito nevus, mongolian spot, and dermal melanocyte hamartoma. To our knowledge, dermal melanocytosis with 4 different morphological forms in a patient has not previously been reported. We report this unique case of dermal melanocytosis with various morphological forms.

The mongolian spot in Thai children.

A study on the prevalence and location of the Mongolian spot in 954 Thai children (491 males and 463 females) within one month of birth was undertaken at Siriraj Hospital, between 1982-1984. Mongolian spot was found in 882 cases (92.5%), 452 males and 430 females, usually in the sacrococcygeal (92.7%) and gluteal (94.7%) regions. Most of the spots were found in both regions. The size of the bluish-green Mongolian spot varied greatly.

A Case of Generalized Dermal Melanocytosis / 대한피부과학회지

Dermal melanocytosis includes Mongolian spot, nevi of Ota and Ito, dermal melanocytic harnartoma, and blue nevus. Nevi of Ota may be respectively associated with Mongolian spot, blue nevi and unilateral or bilateral nevi of Ito. We present a case, a 24 year-old female, who had bilaterally brownish or slatebluish pigmented patches on the face, sclera, neck, anterior chest, deltoid, supraclavicular, scapular, back and sacrococcygeal area. And also she had a bluish, bean-sized nodule on her left mid-back. It is likely that this case may be considered as an extremely extensive case of pig:m.entary anomaly, associating aberrant and persistent mongolian spots, extensive nevus of Ito, bilateral nevus of Ota and blue nevus. To our knowledges it seems that such case has not previously been reported in Korean literature.

A Statistical Study of Morgolian Spot / 대한피부과학회지

This survey was made on 1462 cases in different age groups, from the neonate to the age of 15, to analyse the data statistically concerning the prevalence, size, shape, site and color of Mongolian spot. The results were as follows: 1) Of 1462 cases, Mongolian spot(s) was(were) present in 759(51. 9%) with the sex ratio of male to female, 1: l. 2. The prevalence could be divided into 3 stages, high(neonate to 3years), abruptly declined(4 to 9year), steadily declined (10 to 15years) 2) The mean and standard deviation of diameter represented 4. 56+2. 96cm(M +SD), ranging from 0. 5 to 21 cm. 3) The two most common shapes were ovoid(45. 5%,) and irregularly circular (31.4%). 4) The two most common sites were sacrococcygeal(80. 1%,) and gluteal(75. 1%). 5) The two most common colors were blue(75. 1 %) and purple-blue(13. 5%).