クリッペル・トレノネー・ウェーバー症候群

Bloom syndrome is a rare autosomal recessive chromosomal instability disorder characterized by growth deficiency and early-onset malignancies, and its coexistence with multiple vascular neurocutaneous syndromes is exceptionally uncommon. We report an 8-year-old girl who presented with severe growth failure and persistent pancytopenia. Bone marrow examination showed hypocellularity with monosomy 7, consistent with myelodysplastic neoplasm, and molecular analysis identified a homozygous pathogenic BLM variant (NM_000057.4:c.796C>T; p.Arg266Ter). Clinically, she exhibited overlapping neurocutaneous features within the spectrum of Sturge-Weber syndrome, Klippel-Trénaunay syndrome, and phakomatosis pigmentovascularis. The course was complicated by severe sepsis, leading to death before hematopoietic stem cell transplantation could be performed. This case highlights the importance of considering inherited cancer predisposition syndromes in children with cytopenia, growth failure, and complex neurocutaneous phenotypes.

INTRODUCTION: Parkes-Weber Syndrome (PWS) is a rare congenital vascular disorder of unknown etiology for which no established curative treatments currently exist. High-flow arteriovenous malformations (AVMs) in PWS can lead to severe complications, including the need for major limb amputation. CASE PRESENTATION: A woman in her 50s presented with progressive swelling, severe pain, and impaired ambulation in her right thigh. She was diagnosed at age 14 with varicose veins in her right lower limb and a 1.5-cm limb-length discrepancy, with the right leg longer than the left, and later developed an arteriovenous fistula at age 23. By age 54, examination revealed extensive swelling and hardening of the thigh, with CT imaging showing numerous abnormal vessels forming a nidus and a ruptured hematoma measuring 17 × 14 × 18 cm. She was referred to our facility after unsuccessful attempts to remove hematoma removal at a previous institution and was diagnosed with PWS. Preoperative embolization of multiple niduses was performed to reduce blood flow, although perfusion to other niduses persisted. Hematoma removal was conducted in 2 stages. The first surgery involved securing arterial flow with a stent graft and partial excision of the hematoma (13 h 39 min; blood loss: 9105 mL). Nineteen days later, a second surgery was performed to remove approximately 90% of the hematoma while preserving the remaining wall to avoid complications (8 h 14 min; blood loss: 5533 mL). The patient recovered without complications and was discharged 2 weeks following the second surgery. Minor delays in wound healing resolved within 6 months, and she remains recurrence-free at 48 months. CONCLUSIONS: This case highlights the complexity of managing PWS and underscores the importance of individualized, multidisciplinary care.

Klippel-Trénaunay syndrome (KTS) is a slow-flow vascular malformation characterized by the triad of capillary malformation, limb hypertrophy, and venous malformation, with or without lymphatic malformation. Diagnosis requires the presence of at least 2 of these 3 clinical features; however, there is no consensus regarding dermoscopic or trichoscopic findings. We present the case of a 54-year-old woman with a history of congenital arteriovenous malformation who exhibited clinical, histopathologic, dermoscopic, and trichoscopic findings suggestive of KTS associated with a lower right limb ulcer. We describe a case of KTS diagnosed in adulthood and highlights the potential use of adjunctive diagnostic tools, including trichoscopy and dermoscopy.

Phacomatosis pigmentovascularis (PPV) is a term encompassing a group of disorders characterized by the coexistence of segmental pigmented nevi of melanocytic origin and segmental capillary nevi. Several variants are characterized by a hallmark nevus cesius. Systematic reviews on the topic are lacking. An extensive review and critical reassessment of worldwide literature was carried out. A total of 435, 17, 19, and 17 cases of phacomatosis cesioflammea, phacomatosis cesiomarmorata, phacomatosis cesioflammeomarmorata, and phacomatosis melanocesioflammea, respectively, were identified. Specific clinical manifestations emerged for each variant. Postzygotic mosaic mutations affecting the GNAQ or GNA11 genes have been identified for all these entities. Four cases of nevus cesius associated with nevus anemicus (NA) were also retrieved. Phacomatosis cesioflammea is confirmed to be the most common PPV type by far. Its extracutaneous manifestations mostly consist of Sturge-Weber-Klippel-Trénaunay syndrome-like abnormalities, and ocular melanoma is a rare but relevant occurrence. The clinical associations of phacomatosis cesioflammeomarmorata mostly seem to result from the presence of cutis marmorata telangiectatica congenita. Phacomatosis cesioflammeomarmorata seems to resemble phacomatosis cesioflammea in several respects. A high frequency of NA and the Klippel-Trénaunay phenotype (or leg-length discrepancy) was observed in phacomatosis melanocesioflammea. The existence of "pseudodidymosis cesioanemica" is also corroborated.

In conjunction with the new 2025 ISSVA classification, this article interprets the classification of this group of diseases one by one and elaborates on clinical and pathological issues related to the new classification. It aims to provide a reference for the accurate classification and diagnosis of vascular anomalies diseases from a pathological perspective and further enhance pathologists' in-depth understanding.