Common birthmarks can be an indicator of underlying genetic disease but are often overlooked. Phakomatosis pigmentovascularis, pediatric dermatology. The twin spotting phenomenon has been proposed in the pathogenesis of ppv, and ppv is an example of non. Case report phakomatosis pigmentovascularis with lower limb.
Phacomatosis pigmentovascularis revisited and reclassified. Searching for just a few words should be enough to get started. Phakomatosis pigmentovascularis iib with renal anomaly. Phakomatosis pigmentovascularis ppv is a rare cutaneous disorder characterized by combination of capillary malformation and other pigmented naevi. 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. Sturgeweber syndrome in association with klippeltrenaunay. Access to society journal content varies across our titles.
Phakomatosis pigmentovascularis ppv is a rare, sporadic dermal disorder. The patches were asymptomatic and stable in size and shape. She had history of generalized tonic clonic seizure. The epidermal nevus syndromes are conditions in which epidermal nevi coexist with other features of skeletal, cerebral, ocular, or other systemic involvement. Our team conducted research on a newborn with cmtc. Phakomatosis pigmentovascularis represents a rare cutaneous congenital malformation syndrome characterized by the coexistence of capillary malformation and pigmentary nevi.
There are four types of ppv with subtype a for cutaneous involvement only and subtype b for cutaneous and systemic. To describe the spectrum of retinal vascular abnormalities in patients with phakomatosis pigmentovascularis ppv. In 2005, rudolph happle proposed a more practical and understandable classificationmodel and described four types of ppv. We describe a 1yearold japanese girl who, since birth, has had three nevoid skin disorders. Both are typically present at birth and affect all racial and ethnic groups. Portwinestain with rare associations in two cases from kuwait. 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. Article information, pdf download for phacomatosis pigmentovascularis. Phakomatosis pigmentovascularis type iib in association with. Pdf phakomatosis pigmentovascularis type iia researchgate.
The present study introduces a rare case of phakomatosispigmenjovascularis, which is charaderiud by the existence ofpigmentary naevus ond vascular naevus. Phakomatosis pigmentovascularis presenting with sturgeweber. 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. The objective of this study was to evaluate its characteristics and treatment. Nov 03, 2012 phacomatosis pigmentovascularis ppv represents a rare cutaneous congenital malformation syndrome, characterized mainly by the presence of capillary malformation and pigmentary nevi. 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. Hair restoration surgery using follicular unit transplantation has been a successful treatment modality for tta. Phakomatosis pigmentovascularis iib with renal anomaly phakomatosis pigmentovascularis iib with renal anomaly huang. 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. Until 1985, 63 cases ofthis syndrome have been reported, mostly in japon 56 cases. 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.
Phakomatoses refers to a group of neurooculocutaneous syndromes or neurocutaneous disorders involving structures arising from the embryonic ectoderm. We wish you a cure and never get sick of this disease. Our team conducted research on a newborn with cmtc and aberrant. Phakomatosis pigmentovascularis type iib, sturge weber. If you need to make more complex queries, use the tips below to guide you.
Phakomatosis pigmentovascularis type iva jama dermatology. Type iv, cm, dermal melanosis and nevus spilus, with or without anemic nevus. 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 55 4. Phakomatosis pigmentovascularis ppv is an uncommon dermatosis characterised by the presence of both pigmentary and vascular abnormalities. The present case describes a patient with type iia phacomatosis pigmentovascularis or. Phakomatosis pigmentovascularis iib is characterized by the simultaneous occurrence of a nevus flammeus, a mongolian spot, and sometimes a nevus anemicus. We report a patient with phakomatosis pigmentovascularis lib and numerous iris hamartomas. 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. 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. Phakomatosis pigmentovascularis type iib in association. Classification of phakomatosis pigmentovascularis type vascular feature i nevus flammeus ii iii iv. Cooccurrence with vascular birthmarks defines a subtype of phakomatosis pigmentovascularis ppv, a group of syndromes associated with neurovascular, ophthalmological, overgrowth and malignant.
A child with phakomatosis pigmentovascularis by dr. Mongolian blue spots dermal melanocytosis are usually localized and transient, but they can be extensive, permanent, and associated with extracutaneous abnormalities. Clinical characteristics and treatment of 52 cases of. 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 type iia case report ncbi. Rooks textbook of dermatology is the most comprehensive work of reference available to the dermatologist. We report here a rare association of sturgeweber syndrome, klippeltrenaunay syndrome, and ppv type iib in a 15yearold boy who had right upper limb monoparesis along with a history of recurrent convulsions. Simple presentation of a not so simple dermatological condition. Where to find your sams access token need help logging in. 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 was first reported in 1947.
Jehangir m, quyoom s, bhat j, sajad p, sofi i, amin a, bhat m. Pdf phacomatosis pigmentovascularis of cesioflammea type. These multisystem disorders involve the ectodermal structures like central nervous system, skin and eyes. Robert solomon im living a normal life for the first time. Phacomatosis pigmentovascularis type iiacase report. It was first described by ota in 1947, as an association of dermal melanocytosis with congenital vascular 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. Cooccurrence with vascular birthmarks defines a subtype of phakomatosis pigmentovascularis, a group of syndromes associated with. Tta has been associated with several disorders, such as phakomatosis pigmentovascularis. Cutaneous vascular anomalies phakomatosis pigmentovascularis. Phakomatosis pigmentovascularis ppv is a term coined by ota in 1947 to describe the spectrum of diseases. A rare case of primary squamous cell carcinoma of the thyroid is reported herein. There are four types of ppv with subtype a for cutaneous involvement only and subtype b for cutaneous and systemic involvement. To report a case of bilateral sturgeweber and phakomatosis pigmentovascularis with secondary glaucoma in a child.
Phakomatosis pigmentovascularis is listed as a rare disease by the office of rare diseases ord of the national institutes of health nih. Skin melanocytic tumor phacomatosis pigmentovascularis ppv. 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. Pdf glaucoma in phakomatosis pigmentovascularis robert. She was diagnosed with phakomatosis pigmentovascularis ppv type iib.
The photos of phakomatosis pigmentovascularis below are not recommended for people with a weak psyche. A 64yearold malay lady presented with a gradually enlarging thyroid nodule for the past 6 months and underwent. Retinal vascular abnormalities in phakomatosis pigmentovascularis. Phacomatosis pigmentovascularis of cesioflammea type. Bilateral sturgeweber and phakomatosis pigmentovascularis. The major clinical manifestations consist of coexisting extensive naevus flammeus and pigmentary. Temporal triangular alopecia tta, also known as congenital triangular alopecia, is a nonscarring, noninflammatroy, circumscribed form of alopecia. Pdf phakomatosis pigmentovascularis ppv is a rare cutaneous congenital malformation syndrome, defined as. This means that phakomatosis pigmentovascularis, or a subtype of phakomatosis pigmentovascularis, affects less than 200,000 people in the us population. May 30, 2018 phacomatosis pigmentovascularis ppv is a disorder characterized by the coexistence of vascular and pigmentary birthmarks. Pathology outlines phacomatosis pigmentovascularis ppv. Cooccurrence with vascular birthmarks defines a subtype of phakomatosis pigmentovascularis, a group of syndromes associated. He denied any personal or family history of glaucoma or epilepsy. This is the first case of phakomatosis pigmentovascularis, reported in iran.
Bilateral temporal triangular alopecia associated with. Phakomatosis pigmentovascularis is a rare syndrome characterized by widespread capillary malformation and pigmented nevus. Phacomatosis pigmentovascularis type iia case report. Phacomatosis pigmentovascularis genetic and rare diseases.
Physical examination demonstrated nonblanchable, violaceous to red patches on the right arm, back, and chest. Phakomatosis pigmentovascularis ppv is a rare congenital syndrome that consists of the coexistence of a capillary malformation and a cutaneous pigmented lesion. Phakomatosis pigmentovascularis ppv is an uncommon dermatosis characterised by the. It was first described by ota in 1947, as an association of dermal melanocytosis with congenital vascular nevi, mainly capillary malformations. If you have access to a journal via a society or association membership, please browse to your society journal, select an article to view, and follow the instructions in this box. Phakomatosis definition of phakomatosis by medical. As a group they are characterized by widespread abnormalities often with characteristic appearances. Phacomatosis pigmentovascularis is a rare syndrome characterized by capillary malformation and pigmentary nevus. Phakomatosis pigmentovascularis, pediatric dermatology 10. A 4yearold male child was referred to us for control of intraocular pressure iop. However, it has been subsequently noted that mesodermal and endodermal tissues too are involved. Cutis marmorata telangiectatica congenita and aberrant. 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. Phakomatosis definition of phakomatosis by medical dictionary.
Open access funded by wellcome trust under a creative commons license. Phakomatosis pigmentovascularis ppv is a rare sporadic developmental disorder characterized by coexistence of a cutaneous vascular malformation and pigmentary nevi. Phakomatosis pigmentovascularis ppv is a rare combination of pigmentary and vascular components with or without systemic involvement. Phacomatosis pigmentovascularis ppv is a disorder characterized by the coexistence of vascular and pigmentary birthmarks. Phakomatosis pigmentovascularis presenting with sturge. Mosaic activating mutations in gna11 and gnaq are associated.
Case report phakomatosis pigmentovascularis with lower. A case of phacomatosis pigmentovascularis type iia in a. Phakomatosis pigmentovascularis rooks textbook of dermatology. Phakomatosis pigmentovascularis symptoms, diagnosis. A 55yearold man presented with redviolet patches on the right arm and chest that had been present since birth. Phacomatosis pigmentovascularis type va in a 3month old. Phakomatoses are a group of neurocutaneous disorders characterized by involvement of structures that arise from the embryonic ectoderm thus central nervous system, skin and eyes. We describe a 1 yearold japanese girl who, since birth, has had three nevoid skin disorders.
Phakomatosis pigmentovascularis ppv is defined as the coexistence of a widespread vascular usually capillary nevus nevus flammeus and an extensive pigmentary. Sleeping iop was 36 mm hg in right eye and 28 mm hg in the left eye. Phakomatosis pigmentovascularis ppv is a rare congenital syndrome characterized by the simultaneous presence of capillary malformation and pigmentary. The miracle on fort washington avenue aneurysm surgery is a personal choice, says dr. Phakomatosis pigmentovascularis typ ii a phakomatosis. Portwine stain as a clue for two rare coexisting entities.
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. 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. Phakomatosis cesioflammea is the most common type of ppv, a combination of cutaneous hemangioma and pigmentary nevus. We report a patient with phakomatosis pigmentovascularis iib and numerous iris hamartomas. To our knowledge, the association with multiple iris hamartomas has been reported only. Type v, cutis marmorata telangiectasia congenita associated with dermal melanosis.
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