Aplasia cutis myopia
Aplasia Cutis Myopia Aplasia Cutis Myopia is a rare genetic disorder characterized by the presence of aplasia cutis congenita (ACC) and myopia. This condition involves the congenital absence of skin in localized or widespread areas and is often associated with other anomalies, including ocular defects such as myopia.
Clinical Features[edit | edit source]
Aplasia Cutis Myopia presents with a combination of skin and ocular abnormalities:
- Aplasia Cutis Congenita (ACC):
- ACC is a condition where there is a congenital absence of skin, most commonly affecting the scalp.
- Lesions can vary in size and may be associated with underlying skull defects.
- Wound healing in these areas can be problematic and may require surgical intervention.
- Myopia:
- Myopia, or nearsightedness, is a common refractive error where distant objects appear blurry.
- In Aplasia Cutis Myopia, myopia may be present from birth or develop in early childhood.
- Vision correction options include glasses, contact lenses, or refractive surgery.
Genetic Basis[edit | edit source]
The genetic basis of Aplasia Cutis Myopia is not fully understood, but it is believed to involve mutations in genes responsible for skin and eye development. Genetic counseling may be recommended for affected families.
Diagnosis[edit | edit source]
Diagnosis of Aplasia Cutis Myopia involves:
- Clinical Examination:
- Physical examination to assess the extent of skin lesions and ocular abnormalities.
- Dermatological assessment and ophthalmological evaluation are crucial.
- Genetic Testing:
- Genetic testing may be conducted to identify potential mutations.
- Family history can provide insights into inheritance patterns.
Management[edit | edit source]
Management of Aplasia Cutis Myopia requires a multidisciplinary approach:
- Dermatological Care:
- Treatment of skin lesions may involve surgical repair or conservative management.
- Wound care and infection prevention are important.
- Ophthalmological Care:
- Regular eye examinations to monitor and correct myopia.
- Early intervention can prevent complications such as amblyopia.
Prognosis[edit | edit source]
The prognosis for individuals with Aplasia Cutis Myopia varies depending on the severity of the skin and ocular manifestations. Early diagnosis and appropriate management can improve outcomes.
See Also[edit | edit source]
NIH genetic and rare disease info[edit source]
Aplasia cutis myopia is a rare disease.
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