| CASE REPORT |
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| Year : 2023 | Volume
: 3
| Issue : 2 | Page : 531-532 |
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Goltz syndrome in male: A rare case of focal dermal hypoplasia
Neha Kumari1, Gyan Bhaskar1, Bibhuti P Sinha1, Kumar Anmol2
1 Department of Ophthalmology, Regional Institute of Ophthalmology, Indira Gandhi Institute of Medical Sciences, Patna, Bihar, India
2 Intern, Kasturba Medical College, Manipal, Karnataka, India
Correspondence Address:
Neha Kumari
Flat No. 105, Sona Place, Near Mangal Market, Sheikpura, Bailey Road, Patna - 800 014, Bihar
India
 Source of Support: None, Conflict of Interest: None
DOI: 10.4103/IJO.IJO_2509_22
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Goltz syndrome or focal dermal hypoplasia is a rare meso-ectodermal, X-linked dominant genetic disorder with female preponderance. Though the involvement of multiple systems is present, the hallmark of this syndrome is typical cutaneous features. Here, we report a unique case of Goltz syndrome in a 21-year-old male who presented to us with multiple growths on the palpebral conjunctiva of the right eye along with abnormal ice pick–type lesions on the skin. No significant family history was present. The affected eye also had iris and choroidal coloboma. Mild mental retardation and gingival hyperplasia were noted on systemic examination. Being a multisystem disorder, an ophthalmologist should be aware of its extraocular manifestations that can be fatal.
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