A rare case of Goltz syndrome: Clinical presentation and diagnostic challenges

Omar Nabil Turkistani; Renad Abbas; Saleh Mohammad Aldraibi; Raneem Majed Alqahtani; Abdulhadi Jfri

doi:10.1016/j.jdcr.2026.04.051

May 2, 2026JAAD Case ReportsOpen Access

A rare case of Goltz syndrome: Clinical presentation and diagnostic challenges

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Key Points

To describe the clinical presentation, phenotypic features, and diagnostic challenges associated with Goltz syndrome in an adolescent female.
Clinical and physical examination of a 15-year-old female presenting with progressive cutaneous lesions following the lines of Blaschko since birth.
Comprehensive evaluation of developmental milestones, systemic involvement, and familial history including parental consanguinity and maternal recurrent miscarriages.
Dermatologic examination demonstrated linear Blaschkoid hyperpigmentation, hypopigmentation, scalp plaques, and psoriasiform plaques across limbs with pubertal accentuation.
Associated anomalies included beaked nasal morphology, back-slanted ears, a solitary oral commissure papilloma, digital syndactyly of the right foot, and nail dystrophy without intellectual impairment.

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Implication

Case report demonstrates characteristic cutaneomucosal, facial, and skeletal abnormalities of Goltz syndrome in a female adolescent, highlighting diagnostic features of this rare genodermatosis.

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Turkistani et al. (2026) studied this question.

synapsesocial.com/papers/6a99daa795d477d8a1f508a3 https://doi.org/10.1016/j.jdcr.2026.04.051

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A rare case of Goltz syndrome: Clinical presentation and diagnostic challenges

Key Points

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Implication

Abstract

Discussion

Cite This Study

A rare case of Goltz syndrome: Clinical presentation and diagnostic challenges

Key Points

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Implication

Abstract

Discussion

Cite This Study

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