Schopf-Schulz-Passarge syndrome

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Authors: Kinjal Rambhia, Vidya Kharkar, Sunanda Mahajan and Uday Khopkar
Date: November-December 2018
From: Indian Dermatology Online Journal(Vol. 9, Issue 6)
Publisher: Medknow Publications and Media Pvt. Ltd.
Document Type: Article
Length: 1,492 words

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Byline: Kinjal. Rambhia, Vidya. Kharkar, Sunanda. Mahajan, Uday. Khopkar

Schopf-Schulz-Passarge syndrome (SSPS) is a rare type of ectodermal dysplasia that has autosomal recessive inheritance. It is characterized by palmoplantar keratoderma, hypodontia, hypotrichosis, nail dystrophy, and multiple periocular and eyelid apocrine hidrocystomas. A 36-year-old male presented with multiple eyelid and periocular apocrine hidrocystomas, ichthyosis, palmoplantar keratoderma, hypodontia, nail dystrophy, and thin scalp hair. Skin biopsy from a periocular lesion revealed cyst lined with smooth, thin epithelium, and few areas revealed foci of decapitation secretion consistent with apocrine hidrocystoma. The patient was diagnosed with SSPS.

Introduction

Ectodermal dysplasias are a group of inherited disorders that show features of developmental abnormalities of two or more of the following structures: hair, teeth, nails, sweat glands, and other ectodermally derived structures. SSPS is an autosomal recessive condition characterized by palmoplantar keratoderma, hypodontia, hypotrichosis, nail dystrophy, and multiple periocular and eyelid apocrine hidrocystomas.

Case Report

A 36-year-old male born of a non-consanguineous marriage, presented with swellings on the lateral side of both the eyes since 6 months. The lesions were painless and used to change in size on exposure to heat. There was no history of oozing or bleeding from the lesions. On cutaneous examination, the authors noticed multiple papules and cystic nodules coalescing to form larger cysts bilaterally on the lateral periocular areas [Figure 1]. The cysts were non-tender, firm in consistency with a smooth surface, and not fixed to the underlying structures. The patient also had beaded papules on the upper and lower eyelid margins. He also had bird-like facies. Further examination revealed generalized ichthyosis with sparing of the cubital, popliteal fossae, and axillary folds [Figure 2]a. The palms and soles had a diffuse keratoderma [Figure 2]b, nails of bilateral index and ring fingers were dystrophied, the other nails showed platynychia and koilonychia, whereas all the toe nails showed dystrophy. Oral examination revealed hypodontia, oligodontia, and a smooth red tongue with loss of filiform and fungiform papillae [Figure 2]c. Trans-illumination test of the cyst revealed diffuse red glow in the lesion [Figure 3]. There was oozing of clear serous fluid on piercing a small cyst with a sharp needle.{Figure 1}{Figure 2}{Figure 3}

On further enquiry, the patient revealed that he had normal deciduous teeth which were later...

Source Citation

Source Citation
Rambhia, Kinjal, et al. "Schopf-Schulz-Passarge syndrome." Indian Dermatology Online Journal, vol. 9, no. 6, Nov.-Dec. 2018, p. 448. Accessed 9 Dec. 2022.
  

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