OBSOLETE: Angioosteohypertrophic syndrome

Angioosteohypertrophic syndrome (Orphanet code 2346) is an obsolete disease designation that historically referred to a condition now more commonly known as Klippel-Trénaunay syndrome (KTS). Klippel-Trénaunay syndrome is a rare congenital vascular disorder characterized by a classic triad of clinical features: capillary malformations (port-wine stains), venous malformations with or without lymphatic abnormalities, and soft tissue and/or bony hypertrophy (overgrowth) of an affected limb. The condition typically affects one lower extremity, though it can involve upper limbs or multiple limbs. The vascular malformations can range from superficial capillary stains to deep venous anomalies, and the limb overgrowth may be progressive during childhood. The condition primarily affects the vascular system, skeletal system, and soft tissues. Complications can include thrombophlebitis, deep vein thrombosis, pulmonary embolism, lymphedema, cellulitis, and bleeding from vascular malformations. Internal organ involvement, particularly of the gastrointestinal or genitourinary tract, may also occur. Pain and functional impairment of the affected limb are common concerns. Treatment is largely supportive and symptom-directed. Compression garments are commonly used to manage lymphedema and venous insufficiency. Sclerotherapy or laser therapy may be employed for symptomatic vascular malformations. Surgical interventions, including debulking procedures or epiphysiodesis to address limb length discrepancy, may be considered in selected cases. More recently, targeted therapies such as sirolimus (an mTOR inhibitor) have been explored for managing vascular anomalies. A multidisciplinary approach involving vascular specialists, orthopedic surgeons, and dermatologists is recommended. As this entry is marked obsolete, clinicians and patients should refer to the current Klippel-Trénaunay syndrome classification for up-to-date information.

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