Klippeltrenaunay syndrome genetic and rare diseases. The authors describe nine patients with combined oculodermal vascular malformations five pigmentovascularis. The objective of our study was to describe the clinical characteristics of a series of indian patients presenting with this rare entity. Phakomatosis pigmentovascularis type iib is the most common, followed by type iia. Phakomatosis pigmentovascularis type iva jama dermatology. A rare case of primary squamous cell carcinoma of the thyroid is reported herein. Phakomatosis pigmentovascularis ppv is a rare syndrome characterised by the association of a vascular naevus, usually a capillary naevus naevus flammeus or portwine stain, with an extensive pigmented naevus, most commonly mongolian spot or bluegrey oculocutaneous melanocytosis naevus of ota. A rare disorder involving pigmentation and vascular abnormalities.
Phakomatosis pigmentokeratotica is a rare neurocutanous condition characterized by the combination of an organoid sebaceous nevus and speckled lentiginous nevus 6345. We report a patient with phakomatosis pigmentovascularis lib and numerous iris hamartomas. The full text of this article is available in pdf format. Pdf phakomatosis pigmentovascularis type iia researchgate. We describe a 1 yearold japanese girl who, since birth, has had three nevoid skin disorders. Phakomatosis pigmentovascularis represents a rare cutaneous congenital malformation syndrome characterized by the coexistence of capillary malformation and pigmentary nevi.
Vascular lesions associated with melanocytic nevi were first described by ota et al 1 in 1947 and given the name phacomatosis pigmentovascularis. Phacomatosis pigmentovascularis is a rare disorder which occurs sporadically, with just about 200 cases reported worldwide. Most cases have been described as sporadic, though our patients mother also exhibited a portwine stain on the right neck, suggesting a possible genetic association. Phacomatosis pigmentovascularis with raynauds phenomena. Phakomatosis pigmentovascularis ppv is defined as the coexistence of a widespread vascular usually capillary nevus nevus flammeus and an extensive pigmentary nevus usually of the mongolian spot type or blueslategrey oculocutaneous melanocytosis associated to a variety of other cutaneous nevus e. Phakomatosis pigmentovascularis associated with sturgeweber. Phakomatosis pigmentovascularis symptoms, diagnosis. Iowa farm custom rate survey iowa state university. Phakomatosis pigmentovascularis ppv is a rare syndrome characterized by the association of a vascular. You also get unlimited file sizes as well as the ability to upload and convert several files to pdf at the same time. Phakomatosis pigmentovascularis ppv is a rare congenital syndrome characterized by the simultaneous presence of capillary malformation and pigmentary nevi. Large aberrant mongolian spots coexisting with cutis marmorata. Phakomatosis pigmentovascularis lib is characterized by the simultaneous occurrence of a nevus flammeus, a mongolian spot, and sometimes a nevus anemicus in the same individual, with systemic involvement. We would like to show you a description here but the site wont allow us.
Signs and symptoms may include port wine stain, melanocytic nevi commonly known as moles, epidermal nevi, dermal melanocytosis areas of bluegray discoloration, nevus spilus, and patches of hyperpigmentation areas of. Pdf glaucoma in phakomatosis pigmentovascularis robert. We report the case of an 18monthold korean female paitent. It is often associated with neurological or skeletal anomalies such as hemiatrophy, dysaesthesia and. Phakomatosis pigmentovascularis is a rare, sporadic genetic syndrome characterized by the occurrence of vascular and pigmented nevi with or without extracutaneous manifestations. There are four types of ppv with subtype a for cutaneous involvement only and subtype b for cutaneous and systemic. Phakomatosis pigmentovascularis ppv is a rare congenital syndrome with the combination of vascular anomalies, usually a large nevus flammeus, combined with cutaneous pigmentary abnormalities. Phacomatosis pigmentovascularis of cesioflammea type.
Phakomatosis pigmentovascularis ppv is a rare congenital malformation syndrome that is characteriz. Phakomatosis pigmentovascularis was divided into 4 types in 1985, 3 then later 5 types. Phakomatosis pigmentovascularis type iib associated with klippeltrenaunay syndrome and congenital. An infant with extensive mongolian spot, naevus flammeus and cutis marmorata telangiectatica congenita. Phakomatosis pigmentovascularis ppv is a rare congenital malformation syndrome that is characterized by a combination of capillary abnormalities and dermal melanocytosis that are present from birth and have been classified by hasefawa and yasuhara into 4 types according to the different characteristics of the vascular and pigmentary. Signs and symptoms may include port wine stain, melanocytic nevi commonly known as moles, epidermal nevi, dermal melanocytosis areas of bluegray discoloration, nevus spilus, and patches of hyperpigmentation areas of darker skin. Clinical examples of dermatological, ophthalmological, and neurological aspects of phakomatosis pigmentovascularis. Risk factors for ncpapinduced nasal injury include low birth weight, low. Pathology outlines phacomatosis pigmentovascularis ppv.
To report a case of bilateral sturgeweber and phakomatosis pigmentovascularis with secondary glaucoma in a child. Phakomatosis pigmentovascularis lib is characterized by the simultaneous occurrence of a nevus flammeus. Pdf phacomatosis pigmentovascularis of cesioflammea type. As a group, they are characterized by widespread abnormalities often with characteristic appearances. Phakomatosis pigmentovascularis is a neural crest disorder that is found almost exclusively in asians and has not been described previously in the ophthalmic literature. A 64yearold malay lady presented with a gradually enlarging thyroid nodule for the past 6 months and underwent total thyroidectomy. We describe a 1yearold japanese girl who, since birth, has had three nevoid skin disorders. Bilateral sturgeweber and phakomatosis pigmentovascularis. Phakomatosis pigmentovascularis is a rare congenital condition characterized by capillary malformations and dermal melanosis with or without ocular and systemic involvement. Phakomatosis pigmentovascularis ppv is a rare cutaneous disorder characterized by combination of capillary malformation and other pigmented naevi. Simple presentation of a not so simple dermatological condition. A case of phacomatosis pigmentovascularis type iia in a korean infant jae won ha, ji eun hahm, so eun park, jin yong lee, chul woo kim, sang seok kim department of dermatology, kangdong sacred heart hospital, hallym university college of medicine, seoul, korea dear editor.
Case report phakomatosis pigmentovascularis with lower. A case of a 2yearold 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. Mosaic activating mutations in gna11 and gnaq are associated with phakomatosis pigmentovascularis and extensive dermal melanocytosis anna c. Phacomatosis pigmentovascularis type iia case report. Phakomatosis pigmentovascularis ppv is a rare congenital syndrome characterized by the simultaneous presence of capillary malformation and pigmentary. Article information, pdf download for phacomatosis pigmentovascularis. A case of a 2yearold 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. Phakomatosis pigmentovascularis ppv is defined as the coexistence of a widespread vascular usually capillary nevus nevus flammeus and an extensive. Al robaee a, banka n, alfadley a 2004 phakomatosis pigmentovascularis type iib associated with sturgeweber syndrome. As a service to our customers we are providing this early version of the manuscript. A case of phacomatosis pigmentovascularis type iia in a. Klippeltrenaunay syndrome kts is a syndrome that affects the development of blood vessels, soft tissues, and bones. Phakomatosis pigmentovascularis presenting with sturgeweber syndrome and klippeltrenaunay.
Phakomatosis pigmentovascularis 35 flammeus mostly craniofacial and unilateral, and histologically uncharacteristic. Phakomatosis pigmentovascularis ppv is a rare syndrome characterized by the association of a vascular nevus with an extensive pigmentary nevus. Phakomatosis pigmentovascularis associated with sturge. Irregular erythematous patch on the face of an infant. Pdf phakomatosis pigmentovascularis type iib associated. Phakomatosis pigmentovascularis typ ii a phakomatosis. Phakomatosis pigmentovascularis was first reported in 1947. Vascular malformations associated with steal phenomena. Phakomatoses are a group of neurocutaneous disorders characterized by the involvement of structures that arise from the embryonic ectoderm thus central nervous system, skin, and eyes. Phacomatosis pigmentovascularis type va in a 3month old. Since 1947, approximately 222 cases of ppv have been described in the literature. Objective to provide a new comprehensible and practicable classification by use of descriptive terms to distinguish the various types of phacomatosis pigmentovascularis ppv, which has previously been classified by numbers and letters that are difficult to memorize study selection published case reports on ppv were reassessed data extraction and data synthesis. Four types and two subtypes have been described where subtype a present only with cutaneous form and subtype b also with systemic association like in sturgeweber syndrome or klippeltrenaunay.
We sought to study and evaluate clinical findings in patients with ppv referred to the laser department of our hospital. Primary squamous cell carcinoma of the thyroida case report. Phakomatosis pigmentovascularis coexisting with a variant. Phacomatosis pigmentovascularis ppv is a disorder characterized by the coexistence of vascular and pigmentary birthmarks. Phakomatosis pigmentovascularis is a rare neurocutanous condition where there is coexistence of a capillary malformation portwine stain with various melanocytic lesions, including dermal melanocytosis mongolian spots, nevus spilus, and nevus of ota. A 4yearold male child was referred to us for control of intraocular pressure iop. Phacomatosis pigmentovascularis is a rare group of syndromes characterized by the coexistence of a vascular nevus and a pigmentary nevus with or without extracutaneous systemic involvement. Phacomatosis refers to any of several disorders with multiple hamartomas of nervous system, eye, skin, viscera sometimes spelled phakomatosis. Phacomatosis pigmentovascularis revisited and reclassified. Phakomatosis pigmentovascularis phakomatosis pigmentovascularis van gysel, dirk. Phakomatosis pigmentovascularis presenting with sturge.
Review article ophthalmic alterations in the sturgeweber. The existing classifications of phacomatosis pigmentovascularis are based on phenotypic characteristics. Sleeping iop was 36 mm hg in right eye and 28 mm hg in the left eye. In 2005, happle 2 reclassified phacomatosis pigmentovascularis into 3 welldefined types. The lesions usually involve large areas of the body and the pigmentation color can include pink, bluish and brown. Phacomatosis pigmentovascularis is a rare syndrome characterized by capillary malformation and pigmentary nevus. Mongolian spot, nevus of ota, and nevus of ito can be distinguished easily from phakomatosis pigmentovascularis by the absence of a nevus flammeus and by their typi cal localization. Pdf phakomatosis pigmentovascularis ppv is a rare cutaneous congenital malformation syndrome, defined as simultaneous occurrence of. Phakomatosis pigmentovascularis, pediatric dermatology. It was first described by ota in 1947, as an association of dermal melanocytosis with congenital vascular nevi, mainly capillary malformations. A case of a 2yearold 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 hasegawas classification. Phacomatosis pigmentovascularis type iia case report ncbi.
1597 102 638 884 656 1659 1295 622 69 1053 801 1221 528 290 974 1668 960 1608 517 1108 1157 1437 99 359 702 1191 675 1122 68 312 1047 1467 975 1224 449 873 168 763 47 649