Macrodystrophia lipomatosa (ML) is a rare congenital disorder characterized by localised overgrowth of a part of an extremity or less commonly a whole extremity. The involvement of more than one extremity is even more uncommon. There is a slight predilection for the lower limb affection namely the foot. The overgrown region consists predominantly of adipose tissue. Yet, other tissue components that represent the

mesenchyme Mesenchyme () is a type of loosely organized animal embryonic connective tissue of undifferentiated cells that give rise to most tissues, such as skin, blood or bone. The interactions between mesenchyme and epithelium help to form nearly every o ...

may be involved.

Clinical presentation

Macrodystrophia lipomatosa can manifest in functional incapacitation and esthetic problems. It is usually noticed by parents at birth or shortly after. It may be subject to an increase in size especially around puberty. The diagnosis is largely built upon establishing a comprehensive correlation between history and clinical examination on the one hand and characteristic imaging features on the other hand namely plain radiographs, ultrasound and magnetic resonance imaging examination.

Imaging findings

Plain radiographs may show bone overgrowth and deformity together with osteoarthritis changes in advanced cases. Magnetic resonance imaging (MRI) has been shown to delineate the extent of abnormal fatty tissue in various sequences. It may also be used as a tool for the differential diagnosis of ML.

Differential diagnosis

The differential diagnosis of macrodystrophia lipomatosa includes a wide array of disorders which result in various degrees and patterns of limb overgrowth especially those occurring in childhood and adolescence. * Fibrolipomatous hamartoma *

Proteus syndrome Proteus syndrome is a rare disorder with a genetic background that can cause tissue overgrowth involving all three embryonic lineages. Patients with Proteus syndrome tend to have an increased risk of embryonic tumor development.Freedberg, et al. ...

Neurofibromatosis Neurofibromatosis (NF) is a group of three conditions in which tumors grow in the nervous system. The three types are neurofibromatosis type I (NF1), neurofibromatosis type II Neurofibromatosis type II (also known as MISME syndrome – multi ...

type 1. *

Klippel–Trénaunay syndrome Klippel–Trénaunay syndrome, formerly Klippel–Trénaunay–Weber syndrome and sometimes angioosteohypertrophy syndrome and hemangiectatic hypertrophy, is a rare congenital medical condition in which blood vessels and/or lymph vessels fail t ...

. * Parkes Weber syndrome *

Hemangiomas A hemangioma or haemangioma is a usually benign vascular tumor derived from blood vessel cell types. The most common form, seen in infants, is an infantile hemangioma, known colloquially as a "strawberry mark", most commonly presenting on the ski ...

Management

No medical therapy exists for such a disorder. Treatment depends upon the patient's symptomatology. Gait and functional problems may be addressed by footwear adjustments. Esthetic complaints may be addressed through plastic surgery procedures such as debulking surgery. If a significant deformity is present a corrective osteotomy can be performed in conjugation. Digital amputation is reserved for severe deformities with or without pain.

References

* * *{{cite journal , author = Blacksin M., Barnes FJ, Lyons MM , year = 1992 , title = MR Diagnosis of Macrodystrophia Lipomatosa , journal = Am. J. Roentgenol. , volume = 158 , issue = 6, pages = 1295–1297 , doi = 10.2214/ajr.158.6.1590127 , pmid = 1590127 , doi-access = free Growth disorders