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Rudolf Happle - One of the best experts on this subject based on the ideXlab platform.
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Phacomatosis spilosebacea: A new name for a distinctive binary genodermatosis.
Journal of the American Academy of Dermatology, 2021Co-Authors: Daniele Torchia, Rudolf HappleAbstract:Phacomatosis pigmentokeratotica (PPK) is defined by the association of papular nevus spilus arranged in a flag-like pattern and sebaceous nevus following Blaschko's lines. A systematic search of the worldwide literature retrieved 95 well-established PPK cases. An additional 30 cases were excluded for a number of reasons. Based on this study, we propose to rename PPK phacomatosis spilosebacea (PSS). Mosaic mutations of the HRAS gene are the only proven cause of PSS. The extracutaneous abnormalities of PSS result from various degrees of intermingling of Schimmelpenning syndrome and papular nevus spilus syndrome. PSS seems to be a condition at particularly high risk of developing basal cell carcinoma, urogenital malignancies, and vitamin D–resistant hypophosphatemic rickets. Extracutaneous abnormalities were detected in approximately 75% of PSS cases.
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phacomatosis cesioflammea with cutis marmorata like lesions and unusual extracutaneous abnormalities is it a distinct disorder
Indian Journal of Dermatology, 2017Co-Authors: Shyam B Verma, Hitesh K Desai, Vishal Shah, Rudolf HappleAbstract:A 2-month-old boy was presented with widespread lateralized blue macules (nevus cesius), an extensive nevus flammeus, and large patches of cutis marmorata telangiectatica congenita. Moreover, he had macrocephaly, a coarse facial appearance with depressed nasal bridge, retinal abnormalities, septal defects of the heart, and obliteration of the left brachiocephalic vein and major veins of the left arm with pronounced collateralization. The multisystem disorder of this boy cannot be categorized within the present classification of distinct types of phacomatosis pigmentovascularis. Although some similar complex cases have previously been reported, it seems too early to give them a specific name. Rather, the present case should be included, so far, into the group of unclassifiable types of phacomatosis pigmentovascularis.
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cutis tricolor coexistent with cutis marmorata telangiectatica congenita phacomatosis achromico melano marmorata
European Journal of Dermatology, 2008Co-Authors: Maria Del Carmen Boente, Roxana Obeid, R A Asial, Hilda Bibasbonet, Ana M Coronel, Rudolf HappleAbstract: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.
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Phacomatosis cesioflammea with unilateral lipohypoplasia.
American journal of medical genetics. Part A, 2008Co-Authors: Marco Castori, Corrado Angelo, Rosanna Rinaldi, Paola Grammatico, Giovanna Zambruno, Rudolf HappleAbstract: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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large aberrant mongolian spots coexisting with cutis marmorata telangiectatica congenita phacomatosis pigmentovascularis type v or phacomatosis cesiomarmorata
Journal of The European Academy of Dermatology and Venereology, 2006Co-Authors: Antonio Torrelo, Antonio Zambrano, Rudolf HappleAbstract:A 1-month-old boy showed cutis marmorata telangiectatica congenita (CMTC) involving a block-like pattern on his left leg and thigh and on the left side of his trunk, along with bilateral greyish-blue hyperpigmentation involving the buttocks and thighs and being in part intermingled with CMTC. This association of CMTC with Mongolian spots has been reported as a distinct type of phacomatosis pigmentovascularis (PPV), namely PPV type V. More recently, the term phacomatosis cesiomarmorata (cesius = blue) has been proposed. We believe phacomatosis cesiomarmorata is another example of twin spotting or didymosis.
Antonio Torrelo - One of the best experts on this subject based on the ideXlab platform.
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large aberrant mongolian spots coexisting with cutis marmorata telangiectatica congenita phacomatosis pigmentovascularis type v or phacomatosis cesiomarmorata
Journal of The European Academy of Dermatology and Venereology, 2006Co-Authors: Antonio Torrelo, Antonio Zambrano, Rudolf HappleAbstract:A 1-month-old boy showed cutis marmorata telangiectatica congenita (CMTC) involving a block-like pattern on his left leg and thigh and on the left side of his trunk, along with bilateral greyish-blue hyperpigmentation involving the buttocks and thighs and being in part intermingled with CMTC. This association of CMTC with Mongolian spots has been reported as a distinct type of phacomatosis pigmentovascularis (PPV), namely PPV type V. More recently, the term phacomatosis cesiomarmorata (cesius = blue) has been proposed. We believe phacomatosis cesiomarmorata is another example of twin spotting or didymosis.
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extensive speckled lentiginous nevus associated with giant congenital melanocytic nevus an unusual example of twin spotting
European Journal of Dermatology, 2003Co-Authors: Antonio Torrelo, Inmaculada De Prada, Antonio Zambrano, Rudolf HappleAbstract:A 15-year-old boy had an unusual combination of giant congenital melanocytic nevus on his back and a large speckled lentiginous nevus arranged in a checkerboard pattern on the dorsal and lateral aspects of his trunk. The two pigmentary nevi showed distinguishing features both clinically and histopathologically. The speckled lentiginous nevus was not noted at birth but became visible during childhood. We hypothesize that this uncommon co-occurrence may represent a further example of twin spotting and may be categorized as a new, distinct type of phacomatosis.
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cutis marmorata telangiectatica congenita and extensive mongolian spots type 5 phacomatosis pigmentovascularis
British Journal of Dermatology, 2003Co-Authors: Antonio Torrelo, Antonio Zambrano, Rudolf HappleAbstract:Two patients with an unusual association of extensive cutis marmorata telangiectatica congenita and aberrant mongolian spots are reported. We believe that such association is best explained as a phenomenon of non-allelic twin spotting. We found only one previous similar case in a textbook, and we support the classification of this condition as phacomatosis pigmentovascularis type V.
Antonio Zambrano - One of the best experts on this subject based on the ideXlab platform.
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large aberrant mongolian spots coexisting with cutis marmorata telangiectatica congenita phacomatosis pigmentovascularis type v or phacomatosis cesiomarmorata
Journal of The European Academy of Dermatology and Venereology, 2006Co-Authors: Antonio Torrelo, Antonio Zambrano, Rudolf HappleAbstract:A 1-month-old boy showed cutis marmorata telangiectatica congenita (CMTC) involving a block-like pattern on his left leg and thigh and on the left side of his trunk, along with bilateral greyish-blue hyperpigmentation involving the buttocks and thighs and being in part intermingled with CMTC. This association of CMTC with Mongolian spots has been reported as a distinct type of phacomatosis pigmentovascularis (PPV), namely PPV type V. More recently, the term phacomatosis cesiomarmorata (cesius = blue) has been proposed. We believe phacomatosis cesiomarmorata is another example of twin spotting or didymosis.
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extensive speckled lentiginous nevus associated with giant congenital melanocytic nevus an unusual example of twin spotting
European Journal of Dermatology, 2003Co-Authors: Antonio Torrelo, Inmaculada De Prada, Antonio Zambrano, Rudolf HappleAbstract:A 15-year-old boy had an unusual combination of giant congenital melanocytic nevus on his back and a large speckled lentiginous nevus arranged in a checkerboard pattern on the dorsal and lateral aspects of his trunk. The two pigmentary nevi showed distinguishing features both clinically and histopathologically. The speckled lentiginous nevus was not noted at birth but became visible during childhood. We hypothesize that this uncommon co-occurrence may represent a further example of twin spotting and may be categorized as a new, distinct type of phacomatosis.
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cutis marmorata telangiectatica congenita and extensive mongolian spots type 5 phacomatosis pigmentovascularis
British Journal of Dermatology, 2003Co-Authors: Antonio Torrelo, Antonio Zambrano, Rudolf HappleAbstract:Two patients with an unusual association of extensive cutis marmorata telangiectatica congenita and aberrant mongolian spots are reported. We believe that such association is best explained as a phenomenon of non-allelic twin spotting. We found only one previous similar case in a textbook, and we support the classification of this condition as phacomatosis pigmentovascularis type V.
Hiroo Yokozeki - One of the best experts on this subject based on the ideXlab platform.
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a case of Phakomatosis pigmentovascularis type ii port wine stain and dermal melanocytosis with cutis marmorata telangiectatica congenita like lesions
European Journal of Dermatology, 2016Co-Authors: Takeshi Namiki, Madoka Arai, Keiko Miura, Hiroo YokozekiAbstract:Phakomatosis pigmentovascularis (PPV) is a rare disorder defined as the simultaneous occurrence of a widespread vascular nevus and an extensive pigmentary nevus [1]. PPV is subclassified into five types depending on the pigmentary lesion and vascular lesion [2]. However, this subclassification is controversial [1, 3]. A recent publication reported an unclassifiable PPV with dermal melanocytosis and port-wine stain with cutis marmorata telangiectatica congenita (CMTC) [4]. Here, we present another [...]
Jerry A. Shields - One of the best experts on this subject based on the ideXlab platform.
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choroidal melanoma in Phakomatosis pigmentovascularis with klippel trenaunay syndrome
Retina-the Journal of Retinal and Vitreous Diseases, 2017Co-Authors: Carol L. Shields, Maura Di Nicola, Marco Pellegrini, Jerry A. ShieldsAbstract:PURPOSE To describe the relationship of choroidal melanoma with Phakomatosis pigmentovascularis in patients with Klippel-Trenaunay syndrome. METHODS Retrospective review of 5 patients. RESULTS In all 5 cases, the patient was white and the cutaneous port-wine stain was congenital. The port-wine stain involved the chin (n = 1), jawline (n = 2), lower cheek (n = 1), thorax (n = 5), abdomen (n = 4), upper (n = 4), and lower (n = 3) limb(s). The ocular melanocytosis involved the sclera (n = 5), iris (n = 2) and choroid (n = 4). At diagnosis of choroidal melanoma, mean patient age was 57 years (median 61, range 17-83 years). The melanoma demonstrated mean basal diameter of 11.6 mm (median 12, range 5-16 mm) and mean thickness of 5.7 mm (median 6.1, range 2-9), revealing intrinsic tumor pigment and subretinal fluid in all cases. Melanoma management included plaque radiotherapy (n = 3), thermotherapy (n = 1), or enucleation (n = 1). At mean follow-up of 4 years, one patient demonstrated melanoma-related metastasis with death. CONCLUSION Phakomatosis pigmentovascularis represents coexistence of Klippel-Trenaunay syndrome (or Sturge-Weber syndrome) and oculo(dermal) melanocytosis, promoting risk for life-threatening uveal melanoma. The authors suggest that all patients with Klippel-Trenaunay syndrome be evaluated for Phakomatosis pigmentovascularis and affected patients have dilated fundus examination once or twice a year.
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phacomatosis pigmentovascularis of cesioflammea type in 7 patients combination of ocular pigmentation melanocytosis or melanosis and nevus flammeus with risk for melanoma
Archives of Ophthalmology, 2011Co-Authors: Carol L. Shields, Brad E Kligman, Mayerling Suriano, Juan C Iturralde, Margaret V Shields, Vanessa Viloria, Jerry A. ShieldsAbstract:Objective To describe the features of phacomatosis pigmentovascularis (cesioflammea type). Design Noninterventional retrospective case series composed of 7 patients. Results Nevus flammeus combined with ipsilateral ocular melanocytosis or melanosis was seen in all 7 patients. Additional contralateral nevus flammeus was observed in 3 patients. Nevus flammeus (unilateral in 4 patients and bilateral in 3 patients) was distributed in trigeminal nerves V1 (n = 3), V2 (n = 7), and V3 (n = 5). Related findings included diffuse choroidal hemangioma (n = 1) and glaucoma (n = 1), with no patients having brain hemangioma or seizures. Ocular pigmentary abnormalities (unilateral in all 7 patients) included congenital ocular melanocytosis (n = 6) and conjunctival acquired melanosis (n = 1). Pigmentation was sectorial (partial) in 5 patients and complete in 2 patients. Melanocytosis involved the periocular skin in 1 patient, sclera in 2 patients, iris in 2 patients, and choroid in 4 patients. In 3 of 6 patients, melanocytosis was visible in the choroid only on dilated fundus evaluation. Related tumors included choroidal melanoma (n = 3), optic disc melanocytoma (n = 1), and conjunctival melanoma in situ (primary acquired melanosis) (n = 1). Melanoma metastasis developed in 1 patient. Conclusions Phacomatosis pigmentovascularis shows features of nevus flammeus and more serious ocular pigmentary abnormalities (uveoscleral melanocytosis and conjunctival melanosis). Melanocytosis may be detected only by dilated ocular fundus examination, as found in 3 of 6 patients. Furthermore, choroidal melanoma can develop from melanocytosis, as noted in 3 of our 6 patients (50%). All patients with nevus flammeus should be examined for phacomatosis pigmentovascularis by an ophthalmologist because ocular melanocytosis and uveal melanoma may remain hidden within the eye.