Schopf- Schulz-Passarge syndrome: a rare form of ectodermal
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. One such case has been presented in the Indian Dermatology Online Journal.

A 36-year-old male 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.

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 The palms and soles had a diffuse keratoderma, 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. Trans-illumination test of the cyst revealed diffuse red glow in the lesion. There was oozing of clear serous fluid on piercing a small cyst with a sharp needle.

On further enquiry, the patient revealed that he had normal deciduous teeth which were later replaced with small peg-like teeth. There was diffuse fine scaling over the scalp with sparseness of hair. The body hair and sweating were normal. Ophthalmologic examination did not reveal any abnormality. General and systemic examination did not reveal any abnormality.

Skin biopsy from the periocular lesion revealed a cyst lined with smooth, thin epithelium, and few areas revealed foci of decapitation secretion. Hence, a diagnosis of apocrine hidrocystoma was made. Histopathology of ichthyosis-like skin lesion revealed thinning of the epidermis and absence of granular layer consistent with ichthyosis, whereas palmar lesion revealed compact orthokeratosis and hyperkeratosis of the epidermis which was suggestive of palmoplantar keratoderma. Trichoscopic examination and microscopy of the scalp hair did not reveal any abnormalities in the hair shaft.

Considering the clinical features of palmoplantar keratoderma, hypodontia, nail dystrophy, koilonychia, and platynychia with histopathological findings of multiple apocrine hidrocystomas, the patient was diagnosed with Schopf–Schulz–Passarge syndrome (SSPS).

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Dr. B●●●●●h K●●●r S R and 3 others like this
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