Klippel-Trenaunay and Sturge-Weber overlap syndrome with phakomatosis pigmentovascularis

Abstract

Klippel–Trenaunay syndrome and Sturge–Weber syndrome are rare disorders with neurologic and cutaneous signs of vascular origin. Phakomatosis pigmentovascularis represents the association of widespread, aberrant, and persistent nevus flammeus and pigmentary abnormalities. We describe a case with features suggestive of overlap between them. A ten-month-old boy presented with seizures, developmental delay, skin lesions on face, trunk and legs, buphthalmos and right lower limb hypertrophy. CT scan of head showed atrophy of brain and calcification. Our case had overlap of Klippel–Trenaunay syndrome and Sturge–Weber syndrome with phakomatosis pigmentovascularis

Sturge-Weber syndrome in association with Klippel-Trenaunay syndrome and phakomatosis pigmentovascularis type IIb

“…These interesting combinations of clinical and radiological findings have been extremely rarely reported in the literature. [14][15][16] Phakomatosis pigmentovascularis has also been reported to be associated with temporal alopecia, malignant colon polyposis, scoliosis and leg length discrepancy, hypoplastic larynx and subglottic stenosis, multiple granular cell tumor, selective IgA deficiency, iris hamartomas, and generalized vitiligo. [17][18][19][20][21][22] However, our patient did not have any such abnormalities.…”

Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review

“…To use a consistent set of rules, cesioflammea, cesiomarmorata, spilorosea, and melanorosea were used (Supporting Information Table S2). Of note the nomenclature reported in literature has historically used different terminology; these cases were reclassified (Supporting Information Table S3; Adachi, Togashi, Sasaki, & Sekido, ; Ajith et al, ; Al Robaee, Banka, & Alfadley, ; Arnold, Kleine, & Happle, ; Ben Saif, AlShehab, & Almutawa, ; Bielsa, Paradelo, Ribera, & Ferrandiz, ; Boente Mdel et al, ; Brittain, Walsh, & Smidt, ; Byrom et al, ; Carvalho et al, ; Castori et al, , ; Chang, Hsu, Chen, & Hsieh, ; Chen, Tsai, Lee, Tu, & Huang, ; Chhajed, Pandit, Dhawan, & Jain, ; Chiu et al, ; De Heras, Boixeda, Ledo, & Happle, ; de Luna, Barquin, Casas, & Sidelsky, ; Di Landro, Tadini, Marchesi, & Cainelli, ; Diociaiuti et al, ; Dippel et al, ; Du, Delaporte, Catteau, Destee, & Piette, ; Fernandez‐Guarino et al, ; Finklea et al, ; Fischer & Trautinger, ; Garg et al, ; Gilliam et al, ; Goyal & Varshney, ; Guiglia & Prendiville, ; Gupta, Dubey, & Agarwal, ; Ha et al, ; Hagiwara, Uezato, & Nonaka, ; Hall et al, ; Hasegawa & Yasuhara, ; Hayashi, Kaminaga, Tantcheva‐Poor, Hamasaki, & Hatamochi, ; Henry et al, ; Huang & Lee, ; Jeon et al, ; Joshi, Garg, Agrawal, Agarwalla, & Thakur, ; Jun et al, ; Kaise, Watanabe, & Kobayashi, ; Kanaheswari, Hamzaini, Wong, & Zulfiqar, ; Karabudak, Dogan, Basekim, & Harmanyeri, ; Kaur, Sharma, Sethi, Kooner, & Banger, ; Kikuchi & Okazaki, ; Kim, Park, Yang, Park, & Lee, ; Kola, Mehrafza, & Kane, ; Kono et al, ; K...…”

Klippel Treunanay Syndrome in differential diagnosis of cerebral palsy

“…Port-wine nevus is a feature of Sturge-Weber Syndrome and it is associated with glaucoma, seizures, paresis and neurodevelopmental delay. Neuroradiological findings of this syndrome are leptomeningeal enhancement with cortical atrophy and calcifications (10) .…”