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 21,279 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Phacomatosis cesioflammea is characterized by the co-existence of a large nevus cesius (i.e., aberrant Mongolian spot, or nevus fuscocoeruleus) and an extensive nevus flammeus (i.e., port-wine stain). This sporadic genetic skin disorder represents a particular type of phacomatosis pigmentovascularis, a group of disorders that may reflect twin spotting. We report on a 28-year-old woman with aberrant Mongolian spots, bilateral melanosis bulbi, and systematized nevus flammeus partly intermingled with nevus anemicus. Moreover, pronounced lipohypoplasia of the right buttock and thigh as well as hypoplasia of the right breast are present. This anomaly of fatty tissue has not previously been reported in phacomatosis cesioflammea and further expands the clinical spectrum of this mosaic disorder. The patchy distribution of lipohypoplasia and its spatial relationship with vascular lesions strongly support the hypothesis of a postzygotic recombination event.
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PMID:Phacomatosis cesioflammea with unilateral lipohypoplasia. 1820 53

This is a follow-up report on a boy with phacomatosis pigmentokeratotica. At the age of 10 years he had, in addition to a sebaceous nevus and a speckled lentiginous nevus, multiple lesions of a collagen nevus localized on the chin and in the lumbar area. On the left shoulder, a small telangiectatic spot was present within the area of the speckled lentiginous nevus. Moreover, hemiatrophy of the left-hand side of the body and hyperhidrosis of the left lumbar area were noted. At the age of 16, the lesions of his collagen nevus had considerably enlarged and showed an arrangement along Blaschko lines. Additional pinhead-sized vascular lesions were noted, with preponderance within the area of the speckled lentiginous nevus in the left scapular region and on his left leg. Moreover, the boy had developed severe arterial hypertension since the age of 13. Angiographic examination showed an aortic stenosis that reached from the aortic arch down to the origin of the renal arteries, necessitating a surgical intervention. From this follow-up report we conclude that phacomatosis pigmentokeratotica may be associated with other cutaneous abnormalities such as linear connective tissue nevus of the collagen type and multiple pinhead-sized angioma-like lesions superimposed on the speckled lentiginous nevus. The associated defects of the large vessels may belong to the component of Schimmelpenning syndrome representing one "half" of phacomatosis pigmentokeratotica, rather than being part of the speckled lentiginous syndrome that forms the other "half" of this twin-spot phenotype.
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PMID:Phacomatosis pigmentokeratotica: a follow-up report documenting additional cutaneous and extracutaneous anomalies. 1830 60

Phacomatosis pigmentovascularis is a rare genodermatosis characterized by a combination of melanocytic nevi and vascular malformations. A new type of phacomatosis pigmentovascularis was recently described which included cutis marmorata telangiectatica congenita and aberrant Mongolian spots and was named type V. We report a 3-month-old girl with diagnosis of phacomatosis pigmentovascularis type V.
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PMID:Phacomatosis pigmentovascularis type Va in a 3-month old. 1842 79

The neurocristopathies encompass genetic disorders targeting some structures originating from the neural crest development. Hence, skin is affected by some clinical manifestations of these disorders. This review covers the main aspects found in neurofibromatosis, tuberous sclerosis, incontinentia pigmenti, neurocutaneous melanoblastosis, basal cell naevomatosis and the epidermal naevus syndrome.
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PMID:[Skin and its main neurocristopathies]. 1866 4

Speckled lentiginous naevus (synonym: naevus spilus) no longer represents one clinical entity, but rather, two different disorders can be distinguished. Naevus spilus maculosus is consistently found in phacomatosis spilorosea, whereas naevus spilus papulosus represents a hallmark of phacomatosis pigmentokeratotica. The macular type is characterized by dark speckles that are completely flat and rather evenly distributed on a light brown background, resembling a polka-dot pattern. In contrast, naevus spilus papulosus is defined by dark papules that are of different sizes and rather unevenly distributed, reminiscent of a star map. Histopathologically, the dark spots of naevus spilus maculosus show a 'jentigo' pattern and several nests of melanocytes involving the dermoepidermal junction at the tips of the papillae, whereas most of the dark speckles of naevus spilus papulosus are found to be dermal or compound melanocytic naevi. The propensity to develop Spitz naevi appears to be the same in both types of speckled lentiginous naevus, whereas development of malignant melanoma has been reported far more commonly in naevus spilus maculosus.
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PMID:Speckled lentiginous naevus: which of the two disorders do you mean? 1904 May 14

The association of tuberous sclerosis complex (TSC) and autosomal dominant polycystic kidney disease (ADPKD), termed TSC2/PKD1 contiguous gene syndrome, is a result of molecular defect demonstrating by deletion disrupting TSC2 and PKD1. Dermatopathology of this syndrome has never been addressed. We report 2 sporadic cases form of TSC2/PKD1 contiguous gene syndrome, with emphasis on dermatopathologic findings. Both patients presented with a typical phenotype of TSC and early-onset renal polycystic requiring kidney transplantation in one of the patients. Of a total of 13 cutaneous lesions studied, there were 7 facial angiofibromas, 2 shagreen patches, 1 periungual fibroma, 1 hypopigmented macule, 1 epidermoid cyst, and 1 intradermal melanocytic nevus. The histological features were basically similar to those occurring in TSC, but some unusual features were identified. In both patients, deletions in the region of TSC2 and PKD1 were revealed performing by multiplex ligation probe amplification test. It is concluded that the histopathological features of skin lesions in this syndrome are similar to those encountered in TSC. Clinical awareness and appropriate molecular investigation of TSC2/PKD1 contiguous gene syndrome is necessary in all patients with a typical phenotype of TSC in infancy, adolescence, or adult age, because of severity of the renal alterations.
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PMID:TSC2/PKD1 contiguous gene syndrome: a report of 2 cases with emphasis on dermatopathologic findings. 1959 Apr 22

Speckled lentiginous nevus syndrome is a recently described neurocutaneous disorder characterized by speckled lentiginous nevus in association with hyperhidrosis, skin dysesthesia, and muscular weakness in an ipsilateral manner. We report a 9-year-old boy with a large speckled lentiginous nevus on his trunk, bilateral upper extremities, and neck associated with hyperhidrosis and nonspecific pain in the distribution of the nevus in addition to prominent upper extremity asymmetry and scoliosis. Similar musculoskeletal abnormalities have been reported in patients with phacomatosis pigmentovascularis and phacomatosis pigmentokeratotica which feature speckled lentiginous nevus; however, this patient demonstrates striking musculoskeletal abnormalities in the absence of coexisting vascular lesions or nevus sebaceous.
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PMID:Speckled lentiginous nevus syndrome associated with musculoskeletal abnormalities. 1970 91

We reviewed the causes of "loss of skin color" in 144 patients, who visited Vitiligo Clinic of Kyoto University Hospital between April 2005 and August 2008. The numbers of patients with generalized and segmental Vitiligo vulgaris were 98 (68.1%) and 26 (18.1%), respectively. Small numbers of the patients suffered from Vogt-Koyanagi-Harada disease, piebaldism, congenital albinism, Hypomelanosis of Ito, post-inflammatory hypopigmentation, white leaf-shaped macules associated with tuberous sclerosis and nevus hypopigmentosus. One forth of the patients with generalized vitiligo had complications, while no complications were found in the patients with segmental vitiligo. Among the complications, autoimmune diseases dominated 43% (10 of 23 cases). Autoimmune thyroid diseases explained for the most of the complicated autoimmune diseases and were associated with 7.4% of the patients with generalized vitiligo. Minor autoimmune complications include myasthenia gravis, Sjogren syndrome and autoimmune nephritis. Reflecting the condition that our clinic is located in a university hospital, vitiligo patients with end-stage non-melanoma cancers of internal organs accounted for 8.4% of the patients of generalized vitiligo.
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PMID:Vitiligo vulgaris and autoimmune diseases in Japan: A report from vitiligo clinic in Kyoto University Hospital. 2004 88

The term phacomatosis pigmentovascularis (PPV) refers to the occurrence of vascular nevi with melanocytic or epidermal nevi. We report on monozygotic twins (MZTs) discordant for phacomatosis cesioflammea (PPV type II) providing evidence for the mechanism of twin spotting in the development of PPV. The affected twin had a nevus flammeus on the right arm and the right maxilla, and a pigmented area on the trunk in keeping with a persistent, aberrant Mongolian spot. The affected twin had bilateral ocular melanocytosis with abnormal scleral pigmentation, iris mamillations, increased pigmentation of the trabecular meshwork, and increased fundal pigmentation and secondary glaucoma. DNA testing confirmed monozygosity. This case of MZTs discordant for PPV supports the hypothesis that PPV results from mosaicism due to a post-zygotic mutational event and the concept of twin spotting.
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PMID:Monozygotic twins discordant for phacomatosis pigmentovascularis: evidence for the concept of twin spotting. 2018 7

Phacomatosis cesioflammea is a rare condition defined by the simultaneous presence of both vascular and pigmentary nevus in the same patient. We report a case of a 4-year-old Indian female child who presented with diffuse dermal melanosis on the upper shoulders, upper anterior chest and lower back and extending to involve both sides of the arms and forearms, generalized port-wine stain on the back, shoulders and both upper limbs with sparing of the right palm. At places, the two types of lesions were superimposed on each other and were also present discretely on the back, but in close proximity to each other. There was the presence of melanosis bulbi on the right side of the eye. She was otherwise normal. She was clinically diagnosed as a case of phacomatosis pigmentovascularis cesioflammea. The nonallelic twin spotting phenomenon has been proposed in the pathogenesis of this disorder.
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PMID:Phacomatosis cesioflammea: first case report from India. 2044 18


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