Phacomatosis Pigmentovascularis Type Research Articles

Phacomatosis pigmentovascularis with sturge-weber syndrome and congenital glaucoma: A rare case report.

Phacomatosis pigmentovascularis (PPV) is a rare congenital disease characterized by the co-existence of cutaneous vascular malformation and pigmentary nevi with or without extracutaneous systemic involvement. Here, we present a 2-month old child diagnosed with phacomatosis cesioflammea type of PPV with Sturge-Weber syndrome and secondary congenital glaucoma of the left eye. She underwent combined trabeculotomy and trabeculectomy in the left eye for glaucoma and was started on anti-epileptics for seizure control following pediatric evaluation. Early screening and treatment initiation can prevent blindness and other systemic complications associated with PPV.

Early-Onset Glaucoma Manifesting as Buphthalmos in an Infant with Phakomatosis Pigmentovascularis Type IIa

Abstract Phacomatosis pigmentovascularis (PPV) is a rare type of phakomatosis characterized by co-existence of vascular nevus and pigmentary nevus with or without extracutaneous systemic involvement.Presentation of this rare entity is uncommon among infantile age group and bilateral glaucoma with megalocornea in PPV is exceedingly rare.We present a rare case of bilateral buphthalmos associated with PPV type IIa in a seven-month child who had nonvalved glaucoma drainage device(GDD) in right eye(OD) &combined trabeculotomy+ trabeculectomy in left eye(OS), followed by successful control of intraocular pressure(IOP) for the period of 18 months follow up.We discuss challenges in management with a comprehensive review of literature.

Severe Rhabdomyolysis in Phacomatosis Pigmentovascularis Type IIb associated with Sturge-Weber Syndrome

Phacomatosis pigmentovascularis (PPV) is a rare syndrome characterized by concurrent nevus flammeus (capillary malformation) and pigmentary nevus. According to current research, the major pathophysiologic mechanism in PPV is venous dysplasia with resultant compensatory collateral channels and venous hypertension. Arterial involvement is rare. We herein report our experience on renovascular hypertension, intermittent claudication, and severe rhabdomyolysis due to diffuse stenosis of multiple arteries in a patient with PPV type IIb associated with SWS.

A Neonatal Case of Phacomatosis Pigmentovascularis Type IIa.

A 2-day-old male newborn was consulted to our clinic for cutaneous vascular and pigmentary lesions. The pregnancy of his mother and family history were unremarkable. Physical examination showed bilateral nevus flammeus involving the scalp, face, neck, trunk, upper part of the back, scrotum and the flexor sides of arms and thighs. Large, bluish-grey pigmentation was observed on the abdominal area, back, buttocks, legs and the extensor sides of the arms (Figure 1a, b). Laboratory examination, abdominal ultrasound imaging and magnetic resonance imaging of the brain were normal. Systemic involvement was not detected. Phacomatosis pigmentovascularis (PPV) type IIa was diagnosed. FIG. 1. a, b. Bilateral nevus flammeus involving the scalp, face, neck, trunk, scrotum and the flexor sides of arms and thighs (a). Large, bluish-gray pigmentation on the back, buttocks, legs and the extensor sides of arms (b) Phacomatosis pigmentovascularis is a rare disorder characterized by the coexistence of vascular malformations and pigmentary lesions of skin. The first description of the disease was reported by Ota et al. (1), and Hasegawa et al. (2) classified the disease into four types. Nevus flammeus was the constant vascular malformation for all types. The associated pigmentary lesions were nevus pigmentosus et verrucosus in type I, Mongolian spots with or without nevus anemicus in type II, nevus spilus with or without nevus anemicus in type III and both nevus spilus and Mongolian spots with or without nevus anemicus in type IV. Also, each type was classified into two subtypes based on the absence or presence of systemic involvement. Subtype ‘a’ had only oculocutaneous involvement, while ‘b’ had systemic findings (1, 2). Torrelo et al. (3) observed the coexistence of cutis marmorata telangiectatica congenita (CMTC) and Mongolian spots in two cases and reported this association as PPV type V. Happle et al. (1) proposed a new classification and renamed PPV type II as phacomatosis cesioflammea, PPV type III as phacomatosis spilorosea and PPV type V as phacomatosis cesiomarmorata. Other rare associations were called unclassifiable PPV. Type II is the most common form of the disease, with 50% of cases having systemic involvement (1). Sturge-Weber and Klippel-Trenaunay syndromes are the most common disorders associated with PPV (4). Cerebral atrophy, Arnold-Chiarri type I, bilateral deafness, idiopathic facial paralysis, hydro-cephalia, diabetes insipidus, plexiform neurofibroma, delay in psychomotor development, epilepsy, melanosis oculi, iris hamartomas, glaucoma, chronic corneal oedema, prominent vessels in sclera, pigmentary alternations in retina, cataract, leg-length discrepancy, scoliosis, spinal dysraphism, hemihypertrophy, syndactilia, macrocephalia, renal agenesia, renal angiomatosis, hepatosplenomegaly, umbilical hernia, hypoplasia of leg veins, IgA deficiency, hyper IgE syndrome, colonic polyposis, subglottic stenosis, hypoplastic larynx, and multiple granular cell tumours have been reported as isolated cases and are thought to be incidental findings (1, 2). The most common skin manifestation of PPV is nevus flam-meus. Pigmentary lesions include Mongolian spots, nevus of Ota and Ito. Other reported skin disorders are nevus anemicus, nevus spilus, cafe-au-lait spots, generalised vitiligo and congenital triangular alopecia (1). Cutaneous lesions may spontaneously regress with age, but the patients usually require laser therapy for cosmetic problems. Pulsed dye laser has been used for nevus flammeus and Q-switched lasers have been preferred for the treatment of pigmentary lesions (5).

Red-white and blue baby: a case of phacomatosis pigmentovascularis type V

Phacomatosis pigmentovascularis is a rare genodermatosis characterized by the combination of an extensive pigmentary nevus with a widespread vascular nevus. The coexistence of aberrant dermal melanocytosis and cutis marmorata telangiectatica congenita has been termed phacomatosis pigmentovascularis type V or phacomatosis cesiomarmorata. Phacomatosis pigmentovascularis type V was first described in a 3-month-old boy in 2000. Since then, there have been a further seven cases published in the literature.

Phacomatosis Pigmentovascularis Type Vb in a Three-Year Old Boy.

Dear Editor: We report the case of 3-year-old boy from Russia who presented to our department with reticulated erythematous brown patches involving the face and extremities. All patches were present at birth. The mother's pregnancy and delivery were uneventful. He had no remarkable familial history. Physical examination showed erythematous mottled marble-like lesions on the face and upper extremities. Brown reticulated patches were observed mainly on the lower extremities. In addition, poorly defined gray-bluish pigmented patches suggestive of Mongolian nevi were found on the trunk. Hypertrophy of the right side of the face and leg was observed. The right leg was 2 cm longer than the left (Fig. 1). He showed normal mental and physical development. All laboratory parameters were within normal limits. Brain magnetic resonance imaging revealed an old lacunar infarct in the right centrum semiovale. Multiple skin biopsies the erythematous patch of the face and brown patch of the leg were taken. The histopathologic findings from the erythematous patch were generally normal, except for increased melanin pigment in the basal layer and dermal capillary dilatation (Fig. 2A). The brown patch exhibited increased melanin pigment in the basal layer and spindle-shaped melanocytes with abundant melanin in the dermis (Fig. 2B). Phacomatosis pigmentovascularis (PPV) is rare genodermatosis characterized by the coexistence of pigmentary abnormalities and cutaneous vascular malformation. The twin-spot phenomenon is possible cause of PPV, but the exact genetic and molecular bases of PPV are unclear. PPV is classified into five types according to distinguishing features; moreover, all types are subdivided into subtype a and b, indicating PPV with oculocutaneous involvement only and extracutaneous involvement (e.g., neurologic and skeletal symptoms), respectively1,2. Type V PPV, described by Torrelo et al.1 in 2003, is characterized by cutis marmorata telangiectatica congenita (CMTC) associated with aberrant Mongolian nevi. The diagnosis of PPV is made clinically. To our knowledge, only seven patients with PPV type V have been reported in the literature3,4, none of which were in the Korean literature. Among patients with PPV type V, the most frequently associated extracutaneous features were ophthalmic abnormalities including ocular melanosis, glaucoma, leukocoria, and corneal opacity1,2,4. Body asymmetry and asymmetry of the brain hemispheres have also reported1,2. Although there were cases of cerebral ischemia patient associated with CMTC, there was no definite evidence of an association between cerebral ischemia and CMTC5. As observed in our patient, PPV is congenital abnormality that can be associated with not only ophthalmic abnormality but also skeletal and neurological abnormalities. Considering extracutaneous abnormalities, it is important patients receive full physical examination and proper management immediately after PPV diagnosis and undergo regular follow-up. Although CMTC and Mongolian spot, both tend to lighten over time, prominent lesions have remained in many cases1,2,3,4. Pulsed dye laser and Q-switched lasers for CMTC and pigmented nevi, respectively, can be helpful for improving aesthetics. In summary, we report rare case of 3-year-old boy diagnosed with PPV type Vb. Fig. 1 (A~C) Reticulated, mottled, marble-like erythema on the face and arms, reticulated brown patches on the legs. In addition, bluish-grey patches are seen on the trunk and thighs. (D) The full leg X-ray shows discrepancy in length between the right and left ... Fig. 2 (A) Increased melanin pigment in the basal layer and dilation of capillary in the dermis (H&E, ×100). (B) Increased melanin pigment in the basal layer and scattered spindle-shaped melanocytes with melanin pigment in the dermis (H&E, ...

Phacomatosis cesiomarmorata with hypospadias and phacomatosis cesioflammea with Sturge-Weber syndrome, Klippel-Trenaunay syndrome and aplasia of veins -- case reports with rare associations

Phacomatosis pigmentovascularis (PPV) is a rare genodermatosis characterized by the co-existence of an extensive vascular and a pigmentary nevus with or without extracutaneous manifestations. We report two such rare cases. The first is a 3-year-old boy exhibiting a rare association of cutis marmorata telangiectatica congenita with aberrant dermal melanocytosis along with hypospadias and melanosis oculi (traditionally classified as PPV type Vb or phacomatosis cesiomarmorata - Happle's classification). The other patient is a 5-year-old boy with Sturge-Weber syndrome, Klippel-Trenaunay syndrome, aplasia of iliac, femoral, and popliteal veins and congenital heart disease, associated with aberrant dermal melanocytosis and melanosis oculi (also classified as PPV type IIb or phacomatosis cesioflammea). These sporadic cases display a unique constellation of additional, previously unreported systemic associations, which will further expand the clinical spectrum of phacomatosis pigmentovascularis.

Vascular malformation and common keratinocytic nevus of the soft type: phacomatosis pigmentovascularis revisited.

Phacomatosis pigmentovascularis is a rare syndrome characterized by the coexistence of a pigmented nevus and a cutaneous vascular malformation. We report a 5-year-old boy with all the typical findings of phacomatosis pigmentovascularis type Ia. Although its existence according to the traditional classification has been questioned, this case represents a very rare association of a capillary vascular malformation and a common keratinocytic nevus of the soft type.

Extensive subarachnoid venous angiomatosis with hydrocephalus in phacomatosis pigmentovascularis

An 8-month-old boy with cutaneous vascular malformations and dermal melanocytosis (Mongolian spots, figure, A) on the face and trunk was diagnosed with phacomatosis pigmentovascularis type 2. He had normal neurodevelopment, but progressive macrocephaly (figure, B). Linear brain ultrasonography showed extensive venous angiomatosis in the prominent subarachnoid space (figure, C and D). MRI revealed cortical sulcal widening, prominent leptomeningeal vessels in an enlarged subarachnoid space (figure, E and F), and communicating hydrocephalus (figure, F). Neurologic involvement in phacomatosis pigmentovascularis is uncommon except in Sturge-Weber and Klippel-Trenaunay syndromes.(1,2) Communicating hydrocephalus due to subarachnoid angiomatosis may be underdiagnosed in phacomatosis pigmentovascularis, and should be considered in case of progressive macrocephaly.

Laser therapy treatment of phacomatosis pigmentovascularis type II: two case reports

IntroductionPhacomatosis pigmentovascularis is a rare congenital condition characterized by vascular malformation associated with extensive pigmented nevi. Even though it forms a large, prominent skin lesion, therapy for phacomatosis pigmentovascularis is rarely discussed. To the best of our knowledge, this is the first report of phacomatosis pigmentovascularis type II treated with combined laser therapy using Q-switched alexandrite and long-pulsed dye lasers.Case presentationsIn the first of two cases reported here, a 2-week-old Japanese baby girl was given a diagnosis of phacomatosis pigmentovascularis type II and Klippel–Trénaunay syndrome because of port-wine stains, cutis marmorata telangiectatica congenita, and aberrant Mongolian spots over her trunk and limbs. After five laser therapy sessions under general anesthesia, her aberrant Mongolian spots and port-wine stains have improved. But interestingly, the cutis marmorata telangiectatica congenita on the patient's back has improved without laser therapy.In the second case, a 4-month-old Japanese baby boy was referred to us because of port-wine stains, cutis marmorata telangiectatica congenita, and aberrant Mongolian spots over his face, trunk and limbs. Phacomatosis pigmentovascularis type II was diagnosed and laser therapy was started. After three laser therapy sessions under general anesthesia, the aberrant Mongolian spots and port-wine stains have improved. The cutis marmorata telangiectatica congenita on the baby's back, buttocks, and arms has faded somewhat without laser therapy.ConclusionsCombined laser therapy improved the phacomatosis pigmentovascularis skin lesions, but was not effective for the cutis marmorata telangiectatica congenita with hemiatrophy. Cutis marmorata telangiectatica congenita without atrophy can be expected to improve on its own. Our results will assist physicians considering how best to treat patients with phacomatosis pigmentovascularis.

Phacomatosis Pigmentovascularis Type IIIb Associated with Porokeratosis, Acanthosis Nigricans and Endocrinopathy in Brother and Sister

Phacomatosis Pigmentovascularis Type IIIb Associated with Porokeratosis, Acanthosis Nigricans and Endocrinopathy in Brother and Sister

Two Reports of Phacomatosis Pigmentovascularis Type Iib, One in Association with Sturge-Weber Syndrome and Klippel-Trenaunay Syndrome

We present two rare cases of phacomatosis pigmentovascularis type IIb, with one patient demonstrating concurrent Sturge-Weber syndrome and Klippel-Trenaunay syndrome. To the best of our knowledge, this is the second infantile case meeting diagnostic criteria for systemic phacomatosis pigmentovascularis type IIb, Sturge-Weber syndrome and Klippel-Trenaunay syndrome in the English language literature.

Monozygotic twins discordant for phacomatosis pigmentovascularis: Evidence for the concept of twin spotting

The term phacomatosis pigmentovascularis (PPV) refers to the occurrence of vascular nevi with melanocytic or epidermal nevi. We report on monozygotic twins (MZTs) discordant for phacomatosis cesioflammea (PPV type II) providing evidence for the mechanism of twin spotting in the development of PPV. The affected twin had a nevus flammeus on the right arm and the right maxilla, and a pigmented area on the trunk in keeping with a persistent, aberrant Mongolian spot. The affected twin had bilateral ocular melanocytosis with abnormal scleral pigmentation, iris mamillations, increased pigmentation of the trabecular meshwork, and increased fundal pigmentation and secondary glaucoma. DNA testing confirmed monozygosity. This case of MZTs discordant for PPV supports the hypothesis that PPV results from mosaicism due to a post-zygotic mutational event and the concept of twin spotting.

Phacomatosis spilorosea associated with lymphoedema

Conflicts of interest: none declared. Sir, Phacomatosis spilorosea represents a distinct type within the group of various forms of phacomatosis pigmentovascularis.1 It is defined by a coexistence of naevus spilus of the macular type and naevus roseus. Until 2005, this phenotype was called phacomatosis pigmentovascularis type IIIa or type IIIb,2 but according to this traditional classification neither component of this phenotype was correctly defined. In our view, the ‘naevus spilus’ does not show any papules, thus being always of the macular type, whereas the associated ‘naevus flammeus’ is in fact not a naevus flammeus but always a naevus roseus. By contrast, phacomatosis caesioflammea is always associated with naevus flammeus, which is why naevus roseus has been proposed to represent a distinct type of vascular naevus.3 It shows throughout life a pale pink colour similar to that of a salmon patch. Here we report a further case of phacomatosis spilorosea. A 12‐year‐old girl had vascular and pigmentary skin changes present since birth. The family history was noncontributory. The parents were healthy, and her two older brothers were likewise healthy. She had been born at term after an uneventful pregnancy. A vascular naevus, initially termed ‘naevus flammeus’, involved large parts of the right side, whereas several patches of a pigmentary naevus arranged in an asymmetrical pattern were present on both sides of her body. Moreover, her right leg appeared to be swollen. The oedematous enlargement was treated with massage and a compression stocking. This therapy was not found to be helpful and was subsequently abandoned.

Phacomatosis Pigmentovascularis Type Va in a 3‐Month Old

Phacomatosis pigmentovascularis is a rare genodermatosis characterized by a combination of melanocytic nevi and vascular malformations. A new type of phacomatosis pigmentovascularis was recently described which included cutis marmorata telangiectatica congenita and aberrant Mongolian spots and was named type V. We report a 3-month-old girl with diagnosis of phacomatosis pigmentovascularis type V.

Phacomatosis cesioflammea with unilateral lipohypoplasia

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.

Phacomatosis pigmentovascularis type IIIb

Phacomatosis pigmentovascularis (PPV) is a group of syndromes comprising coexistent vascular and pigmentary nevi, which is first classified into five subtypes and then further categorized according to the absence or presence of associated systemic findings as type (a) and (b), respectively. This case report is of an 11-year-old Turkish girl with extensive vascular nevus and nevus spilus. Because of coexistent scoliosis, the patient represents an example of PPV type IIIb. Including the present case, a total of eight cases of PPV type IIIb have been reported to date. The case is discussed in view of the new classification proposed by Happle.

Large aberrant Mongolian spots coexisting with cutis marmorata telangiectatica congenita (phacomatosis pigmentovascularis type V or phacomatosis cesiomarmorata)

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.

Treatment of Phacomatosis Pigmentovascularis: A Combined Multiple Laser Approach

BACKGROUND. Phacomatosis pigmentovascularis (PPV) consists of a capillary malformation with a variety of melanocytic lesions, which involve various regions of the body and are difficult to treat with conventional therapeutic tools. OBJECTIVE. We described two cases with PPV (type IIa and IIb) that were successfully treated with different lasers. METHODS. The areas involved by both melanocytic lesions and port-wine stains were treated using the Q-switched ruby laser, the Q-switched Alexandrite laser, and the flashlamp pumped pulsed-dye laser. RESULTS. Removal of a good portion of cutaneous and vascular lesions using combined multiple laser approach was achieved after 6 sessions in the first case under general anesthesia and after 31 sessions under local anesthesia in the second case. CONCLUSION. PPV type II can be treated successfully by laser treatment. We prefer to start combined multiple laser treatment of PPV in childhood period under general anesthesia because it will reduce the number of treatment, improve the patient's quality of life, and increase the cost-effectiveness of the treatment.