What question did this study set out to answer?

To describe the clinical presentation, phenotypic features, and diagnostic challenges associated with Goltz syndrome in an adolescent female.

May 2, 2026JAAD Case ReportsOpen Access

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

View Full Paper

Ask AI

Bookmark

Authors

OTOmar Nabil Turkistani RARenad Abbas SASaleh Mohammad Aldraibi

Discussion

Member takes

Overview

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

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.

Cite This Study

Turkistani et al. (2026) studied this question.

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

View Full Paper

Ask AI

Bookmark

May 2, 2026JAAD Case ReportsOpen Access

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

View Full Paper

Ask AI

Bookmark

Authors

OTOmar Nabil Turkistani RARenad Abbas SASaleh Mohammad Aldraibi

Discussion

Member takes

Overview

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

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.

Cite This Study

Turkistani et al. (2026) studied this question.

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

View Full Paper

Ask AI

Bookmark