Phacomatosis pigmentovascularis is a rare syndrome characterized by capillary malformation and pigmentary nevus. In 2005, happle 2 reclassified phacomatosis pigmentovascularis into 3 welldefined types. The diagnosis of phacomatosis pigmentovascularis type llb seemed appropriate for this. Phakomatosis pigmentovascularis type iib in association. Macrocephalycutis marmorata telangiectatica congenita in. Bilateral temporal triangular alopecia associated with. A rare disorder involving pigmentation and vascular abnormalities. Bilateral sturgeweber and phakomatosis pigmentovascularis. Pdf glaucoma in phakomatosis pigmentovascularis robert. Pdf phakomatosis pigmentovascularis ppv is a rare cutaneous congenital malformation syndrome, defined as simultaneous occurrence of. Phakomatosis pigmentovascularis ppv is a rare cutaneous disorder characterized by combination of capillary malformation and other pigmented naevi.
The objective of this study was to evaluate its characteristics and treatment. The lesions usually involve large areas of the body and the pigmentation color can include pink, bluish and brown. Phakomatosis pigmentovascularis type iib, sturge weber. To eliminate the cumbersome traditional classification by numbering and lettering, the following new terms are proposed. Phacomatosis pigmentovascularis with a selective iga. It was first described by ota in 1947, as an association of dermal melanocytosis with congenital vascular nevi.
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. Phakomatosis pigmentovascularis coexisting with a variant. Phakomatosis pigmentovascularis ppv is a rare syndrome characterized by the association of a vascular nevus with an extensive pigmentary nevus. Cutis marmorata telangiectatica congenita and aberrant. Phakomatosis pigmentovascularis was divided into 4 types in 1985, 3 then later 5 types. Phacomatosis pigmentovascularis type va in a 3month old. 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.
Abstract phakomatosis pigmentovascularis is a rare syndrome characterized by widespread capillary malformation and pigmented nevus. A case of phacomatosis pigmentovascularis type iia in a. Phakomatosis pigmentovascularis symptoms, diagnosis. 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 is a neural crest disorder that is found almost exclusively in asians and has not been described previously in the ophthalmic literature. Phacomatosis pigmentokeratotica vs phacomatosis pigmentovascularis these 2 phenotypes can be differentiated easily. 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. Vascular malformations associated with steal phenomena.
Ultrastructural study demonstrated prominent endothelial cells in the lumina of the blood vessels. Clinical characteristics and treatment of 52 cases of phakomatosis. Hair restoration surgery using follicular unit transplantation has been a successful treatment modality for tta. Phakomatosis pigmentovascularis lib is characterized by the simultaneous occurrence of a nevus flammeus, a mongolian spot, and sometimes a nevus anemicus. Phakomatosis pigmentovascularis ppv is defined as the coexistence of a widespread vascular usually capillary nevus nevus flammeus and an extensive. Phacomatosis pigmentovascularis ppv is a disorder characterized by the coexistence of vascular and pigmentary birthmarks. There are four types of ppv with subtype a for cutaneous involvement only and subtype b for cutaneous and systemic. There are four types of ppv with subtype a for cutaneous involvement only and subtype b for cutaneous and systemic involvement. Sleeping iop was 36 mm hg in right eye and 28 mm hg in the left eye. Clinical characteristics and treatment of 52 cases of.
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. Subcategories of the 5 types include type a, which denotes a lack of extracutaneous involvement, and type b, which is used when internal manifestations have been exhibited. Phacomatosis pigmentovascularis type iia case report ncbi. 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 refers to any of several disorders with multiple hamartomas of nervous system, eye, skin, viscera sometimes spelled phakomatosis. This study aimed to conduct an evaluation of music therapy clinical trials worldwide, to understand what trials have been conducted and to show the chronol. We report the case of an 18monthold korean female paitent. A 64yearold malay lady presented with a gradually enlarging thyroid nodule for the past 6 months and underwent total thyroidectomy. 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.
However, it has been subsequently noted that mesodermal and endodermal tissues too are involved. Phakomatosis pigmentovascularis presenting with sturge. Phacomatosis pigmentovascularis type iia case report. The existing classifications of phacomatosis pigmentovascularis are based on phenotypic characteristics. Pdf phakomatosis pigmentovascularis type iia researchgate. Review article ophthalmic alterations in the sturgeweber. Phakomatosis pigmentovascularis is a rare congenital condition characterized by capillary malformations and dermal melanosis with or without ocular and systemic involvement. Clinical examples of dermatological, ophthalmological, and neurological aspects of phakomatosis pigmentovascularis. Mosaic activating mutations in gna11 and gnaq are associated with phakomatosis pigmentovascularis and extensive dermal melanocytosis.
Mosaic activating mutations in gna11 and gnaq are associated with phakomatosis pigmentovascularis and extensive dermal melanocytosis anna c. Cooccurrence with vascular birthmarks defines a subtype of phakomatosis pigmentovascularis ppv, a group of. Phakomatosis pigmentovascularis ppv is a rare congenital syndrome characterized by the simultaneous presence of capillary malformation and pigmentary nevi. 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. However, the similarity of the 2 names may reflect a common genetic mechanism explaining the 2 different disorders, because in 1989, phacomatosis pigmentovascularis was explained as a possible example of twin spotting. Phakomatosis pigmentovascularis ppv is a rare congenital syndrome characterized by the simultaneous presence of capillary. A case of phakomatosis pigmentovascularis the journal of. The objective of our study was to describe the clinical characteristics of a series of indian patients presenting with this rare entity. Pathology outlines phacomatosis pigmentovascularis ppv. Large aberrant mongolian spots coexisting with cutis marmorata.
To report a case of bilateral sturgeweber and phakomatosis pigmentovascularis with secondary glaucoma in a child. Phakomatosis pigmentovascularis represents a rare cutaneous congenital malformation syndrome characterized by the coexistence of capillary malformation and pigmentary nevi. Temporal triangular alopecia tta, also known as congenital triangular alopecia, is a nonscarring, noninflammatroy, circumscribed form of alopecia. Phacomatosis pigmentovascularis revisited and reclassified. Pdf phakomatosis pigmentovascularis type iib associated. Phakomatoses refers to a group of neurooculocutaneous syndromes or neurocutaneous disorders involving structures arising from the embryonic ectoderm. As a service to our customers we are providing this early version of the manuscript. Phakomatosis pigmentovascularis type ii b associated with sturgeweber syndrome. Phakomatosis pigmentovascularis ppv is a rare syndrome characterized by the association of a vascular nevus with an extensive.
Phakomatosis pigmentovascularis ppv is a rare congenital syndrome characterized by the simultaneous presence of capillary malformation and pigmentary. We report a patient with phakomatosis pigmentovascularis lib and numerous iris hamartomas. Since 1947, approximately 222 cases of ppv have been described in the literature. Histopathology revealed a squamous cell carcinoma of the thyroid with complete resection. Irregular erythematous patch on the face of an infant. An infant with extensive mongolian spot, naevus flammeus and cutis marmorata telangiectatica congenita. Phakomatosis pigmentovascularis indian journal of dermatology.
Phakomatosis pigmentovascularis is a rare syndrome characterized by widespread capillary malformation and pigmented nevus. Phakomatosis pigmentovascularis ppv represents an heterogeneous. 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 malformations. 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. The overgrowth of bones and soft tissues usually begins 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. A 4yearold male child was referred to us for control of intraocular pressure iop.
These multisystem disorders involve the ectodermal structures like central nervous system, skin and eyes. The authors describe nine patients with combined oculodermal vascular malformations five pigmentovascularis. We sought to study and evaluate clinical findings in patients with ppv referred to the laser department of our hospital. Tta has been associated with several disorders, such as phakomatosis pigmentovascularis. Klippeltrenaunay syndrome kts is a syndrome that affects the development of blood vessels, soft tissues, and bones. 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. Vascular lesions associated with melanocytic nevi were first described by ota et al 1 in 1947 and given the name phacomatosis pigmentovascularis. This is a pdf file of an unedited manuscript that has been accepted for publication. Phakomatosis pigmentovascularis ilb 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. Phacomatosis pigmentovascularis is defined as the coexistence of an extensive vascular naevus and various melanocytic lesions. 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. Case report phakomatosis pigmentovascularis with lower. Klippeltrenaunay syndrome genetic and rare diseases. 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.
346 1568 892 282 104 353 164 1461 841 955 710 1292 705 712 1250 1019 1159 151 1300 33 127 72 876 1480 260 1486 133 169