Hemiatrophy

Area of Science:

• Medical Genetics
• Developmental Biology
• Plastic Surgery

Background:

• Combined ipsilateral facial and somatic hemiatrophy is a rare condition characterized by asymmetry affecting the face and limbs on the same side of the body.
• Diagnostic features include asymmetry of the face, tongue, ear, and limbs, with decreased length and size of the affected extremities.

Purpose of the Study:

• To describe the clinical presentation and characteristics of combined ipsilateral facial and somatic hemiatrophy.
• To investigate the potential causes and progression of this rare disorder.

Main Methods:

• Case series review of seven patients diagnosed with combined ipsilateral facial and somatic hemiatrophy.
• Clinical observation and assessment of diagnostic features, including facial and limb asymmetry.
• Evaluation of disease progression and associated symptoms.

Main Results:

• The condition presents at birth with mild, non-progressive facial hemiatrophy and ipsilateral limb asymmetry.
• Leg length discrepancies are manageable and do not appear to worsen significantly.
• Cosmetic concerns are a primary identifier of the condition, present from birth.

Conclusions:

• Combined ipsilateral facial and somatic hemiatrophy is a congenital, non-progressive disorder with a likely multifactorial genetic etiology.
• While limb discrepancies are manageable, the cosmetic aspects are significant identifiers.
• Further research into the genetic basis is warranted.