The first published case dates back to 1910 but the condition was elucidated first by ota et al. Type iib is characterized by capillary malformation and blue spots and systemic signs with or without nevus anemicus. Phakomatosis pigmentovascularis presenting with sturgeweber. Cutaneous vascular anomalies phakomatosis pigmentovascularis. Jan 01, 2003 read phakomatosis pigmentovascularis and lisch nodules. Pdf glaucoma in phakomatosis pigmentovascularis robert. Both are typically present at birth and affect all racial and ethnic groups. Klippeltrenaunay and sturgeweber overlap syndrome with. Phacomatosis pigmentovascularis of cesioflammea type. Phakomatosis pigmentovascularis associated with sturgeweber. These multisystem disorders involve the ectodermal structures like central nervous system, skin and eyes. 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. The objective of our study was to describe the clinical characteristics of a series of indian patients presenting with this rare entity. 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 type iiacase report. Phacomatosis pigmentovascularis ppv represents a rare cutaneous congenital malformation syndrome, characterized mainly by the presence of capillary malformation and pigmentary nevi. 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. Isaacson gets his third top doctor award of the year dr. This means that phakomatosis pigmentovascularis, or a subtype of phakomatosis pigmentovascularis, affects less than 200,000 people in the us population. Phacomatosis pigmentovascularis is characterized by an association of a vascular nevus with an extensive pigmentary nevus. Phakomatosis pigmentovascularis ppv is a rare cutaneous disorder characterized by combination of capillary malformation and other pigmented naevi. Classification of phakomatosis pigmentovascularis type vascular feature i nevus flammeus ii iii iv. May 30, 2018 phacomatosis pigmentovascularis ppv is a disorder characterized by the coexistence of vascular and pigmentary birthmarks.
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. Phakomatosis pigmentovascularis ppv is a rare congenital syndrome that consists of the coexistence of a capillary malformation and a cutaneous pigmented lesion. We report a patient with phakomatosis pigmentovascularis lib and numerous iris hamartomas. Type v, cutis marmorata telangiectasia congenita associated with dermal melanosis. 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 of cesioflammea type 55 4. Type iv, cm, dermal melanosis and nevus spilus, with or without anemic nevus. A child with phakomatosis pigmentovascularis by dr. Cutaneous vascular malformations are rare disorders that are often confused with more common infantile hemangiomas. 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. Case report phakomatosis pigmentovascularis with lower. Phacomatosis pigmentovascularis is a rare syndrome characterized by the coexistence of a pigmented nevus and a cutaneous vascular malformation. Jeffrey bruce esteemed panelist at another free cancercare teleconference dr.
Read phakomatosis pigmentovascularis and lisch nodules. Phakomatoses definition of phakomatoses by medical dictionary. Klippeltrenaunay and sturgeweber overlap syndrome with phakomatosis pigmentovascularis monika chhajed 1, sadbhavna pandit 1, neeraj dhawan 1, amit jain 2 1 department of pediatrics, government medical college, sec 32, chandigarh 160 032, india 2 department of radiology, government medical college, sec 32, chandigarh 160 032, india. Phakomatosis cesioflammea is the most common type of ppv, a combination of cutaneous hemangioma and pigmentary nevus. There are four types of ppv with subtype a for cutaneous involvement only and subtype b for cutaneous and systemic. Case report phakomatosis pigmentovascularis with lower limb. The photos of phakomatosis pigmentovascularis below are not recommended for people with a weak psyche. Phakomatosis pigmentovascularis ppv is a rare sporadic genetic disorder characterised by cooccurrence of an extensive vascular nevus and a large pigmentary nevus with or without extracutaneous manifestations. Phakomatosis pigmentovascularis ppv is a rare cutaneous congenital malformation syndrome, defined as simultaneous occurrence of congenital cutaneous vascular and pigmentary anomalies. In 2005, rudolph happle proposed a more practical and understandable classificationmodel and described four types of ppv.
A rare case of primary squamous cell carcinoma of the thyroid is reported herein. Although its existence according to the traditional classification has been questioned, this case represents a very rare association of a capillary. Progressive neurologic abnormalities in a woman with. 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. 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. She had history of generalized tonic clonic seizure. Phakomatosis definition of phakomatosis by medical dictionary.
Phacomatosis pigmentovascularis ppv is a disorder characterized by the coexistence of vascular and pigmentary birthmarks. Phakomatosis pigmentovascularis was first reported in 1947. Phakomatosis pigmentovascularis ppv is a rare congenital syndrome characterized by the simultaneous presence of capillary malformation and pigmentary nevi. A rare case of phakomatosis pigmentovascularis type iib. Phakomatosis pigmentovascularis ppv is a rare, sporadic dermal disorder. We wish you a cure and never get sick of this disease.
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. A 64yearold malay lady presented with a gradually enlarging thyroid nodule for the past 6 months and underwent. We report the case of a female infant who presented with phacomatosis pigmentovascularis type iia with features of klippeltrenaunayweber syndrome. Vascular malformation and common keratinocytic nevus of the. Nov 03, 2012 phacomatosis pigmentovascularis ppv represents a rare cutaneous congenital malformation syndrome, characterized mainly by the presence of capillary malformation and pigmentary nevi. Phacomatosis pigmentovascularis type vb in a threeyear. To describe the relationship of choroidal melanoma with phakomatosis pigmentovascularis in patients with klippeltrenaunay syndrome. Marys hospital, college of medicine, the catholic university of korea, seoul, korea dear editor. Phakomatosis pigmentovascularis typ ii a phakomatosis. Phakomatosis pigmentovascularis ppv has several variants due to different combinations of pigmentary lesions and vascular lesions. We describe a 1yearold japanese girl who, since birth, has had three nevoid skin disorders. Pdf phacomatosis pigmentovascularis of cesioflammea type. 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.
We report the case of a 3yearold boy from russia who. Phacomatosis pigmentovascularis type vb in a threeyear old boy hee jin jun, so min kim, sang hyun cho, jeong deuk lee, hei sung kim department of dermatology, incheon st. Vascular malformations associated with steal phenomena. 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.
Phakomatosis pigmentovascularis is a rare congenital disease involving capillary malformation and pigmented nevi. The present case describes a patient with type iia phacomatosis pigmentovascularis or. 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. Phakomatosis pigmentovascularis is listed as a rare disease by the office of rare diseases ord of the national institutes of health nih.
A case of phacomatosis pigmentovascularis type iia in a. Chow case summary history a threeyear old girl was referred to the dermatology clinic because of the presence of extensive vascular lesions on right side of face, trunk and limbs and extensive blue patches noted since birth. Phacomatosis pigmentovascularis genetic and rare diseases. The portwine stain involved the chin n 1, jawline n. Phakomatosis pigmentovascularis rooks textbook of dermatology. An infant with extensive mongolian spot, naevus flammeus and cutis marmorata telangiectatica congenita. In all 5 cases, the patient was white and the cutaneous portwine stain was congenital. Phakomatosis pigmentovascularis, pediatric dermatology 10. Phakomatosis definition at, a free online dictionary with pronunciation, synonyms and translation. The epidermal nevus syndromes are conditions in which epidermal nevi coexist with other features of skeletal, cerebral, ocular, or other systemic involvement. Phacomatosis pigmentovascularis type iia case report. Searching for just a few words should be enough to get started.
Phakomatosis pigmentovascularis symptoms, diagnosis. Pathology outlines phacomatosis pigmentovascularis ppv. Jeffrey bruce discusses cutting edge brain tumor treatment at aans 20 dr. The coexistence of cutis marmorata telangiectatica congenita cmtc with mongolian spots has been reported as a distinct type of phacomatosis pigmentovascularis ppv, namely ppv type v or phacomatosis cesiomarmorata. Cutis marmorata telangiectatica congenita and aberrant. Cutaneous vascular anomalies phakomatosis pigmentovascularis april 20th, 20 phakomatosis pigmentovascularis is a group of skin disorders in which patients have a combination of a vascular skin malformations and a melanocytic skin lesions that i encounter in both my the woodlands dermatology and conroe dermatology offices. If you need to make more complex queries, use the tips below to guide you.
Phakomatosis pigmentovascularis ppv is a rare sporadic developmental disorder characterized by coexistence of a cutaneous vascular malformation and pigmentary nevi. Case report of type iia page 19 case report abstract phakomatosis pigmentovascularis ppv is a rare sporadic developmental disorder characterized by coexistence of a cutaneous vascular malformation and pigmentary nevi. Phacomatosis pigmentovascularis type va in a 3month old. Jehangir m, quyoom s, bhat j, sajad p, sofi i, amin a, bhat m. Skin melanocytic tumor phacomatosis pigmentovascularis ppv.
Bilateral sturgeweber and phakomatosis pigmentovascularis. Phakomatosis pigmentovascularis is a very rare disease characterized by coexistence of a capillary malformation with various melanocytic lesions, including dermal melanocytosis mongolian spots. Phakomatosis pigmentovascularis ppv is a diagnostic term ota et al. Phacomatosis pigmentovascularis is a rare syndrome characterized by capillary malformation and pigmentary nevus. Phakomatosis pigmentovascularis type iva jama dermatology. We report a 5yearold boy with all the typical findings of phacomatosis pigmentovascularis type ia. Phakomatoses refers to a group of neurooculocutaneous syndromes or neurocutaneous disorders involving structures arising from the embryonic ectoderm. Phacomatosis pigmentovascularis revisited and reclassified. To our knowledge, the association with multiple iris hamartomas has been reported only.
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