Schöpf-Schulz-Passarge syndrome with pili torti: a new association?

ARTICLE

Auteur(s) : Grégory Szepetiuk^1,2, Olivier Vanhooteghem^1,2, Gebhard Muller³, Jean Jacques Stene⁴, Arjen F Nikkels²

¹Department of Dermatology, Clinique Sainte-Elisabeth, B-5000, Namur, Belgique
²Department of Dermatology, CHU du Sart-Tilman, B-4000, Liège, Belgique
³Departement of Pathology, Clinique Sainte-Elisabeth, B-5000, Namur, Belgique
⁴Department of Dermatology, CHU Saint-Pierre, B-1000, Bruxelles, Belgique

Schöpf-Shultz-Passarge (SSP) syndrome is a rare ectodermal genodermatosis, requiring a long-term multidisciplinary approach of care, including dermatology, dentistry, and ophthalmology.

A 56-year-old Caucasian man with Schöpf-Shultz-Passarge (SSP) syndrome is presented with a previously unreported cutaneous marker. Previous medical history included several squamous and basal cell carcinomas, deep venous thrombosis, pulmonary embolism, hypertension, and dyslipidemia. Cardiac transplantation was performed for ischemic cardiopathy in 1992. Current medication included cyclosporine, azathioprine, methylprednisolone, lisinopril, furosemide, acenocoumarol, and atorvastatin.

Clinical examination revealed multiple small, whitish, sometimes bluish, asymptomatic cysts of the superior and inferior eyelids. The lesions had appeared progressively over the past decade (figure 1A). His face showed a typical « birdface » appearance (figure 1B). Ungueal alterations included brittle and furrowed nails, some presenting partial congenital anonychia, whereas others were dystrophic. The ungueal and dental alterations were present at birth. Palmoplantar keratoderma with comedon-like lesions appeared during adolescence, particularly involving pressure-bearing areas. The hair appeared woolly (figure 1C). Polarized light microscopy revealed an aspect of pili-torti with areas of hair shaft narrowing (figure 1D). Histological examination of the eyelid cysts evidenced a cystic formation in the dermis lined by cuboidal apocrine secretory cells within flattened myoepithelial cells, diagnostic of apocrine hidrocystoma. The majority of the permanent teeth were absent, as evidenced on an orthopantogram. The clinical and histological findings were consistent with a case of sporadic SSP syndrome. His parents presented no similar manifestations and no history of consanguinity. The patient had no siblings or children.

Since its initial description by Schöpf [1], 24 cases of SSP have been reported. Although the transmission seems to follow an autosomal recessive pattern, the possibility of a dominant mode remains discussed. Sporadic cases and consanguinity are reported [2]. Recently, locus homogeneity was suggested for a recessive mutation with instances of pseudo dominant inheritance [2].

The diagnosis of SSP relies on major and minor criteria [3]. The major criteria include hypodontia with a normal or aberrant temporary dentition and an absence or a severe alteration of the permanent teeth. The palmoplantar keratoderma usually appears progressively during adolescence. The bluish and/or pinkish eyelid cysts are apocrine hidrocystomas and usually appear later in life [2]. They are present in all the published cases. Calcification of these cysts may occur. Multiple eccrine hidrocystomas have been reported. The tumours can be located on the ears, the shoulders, the feet, the external genitalia, or the scalp. Their pathogenesis remains hypothetical, either deriving from adenomatous proliferations from normal Moll glands [1] or originating from ectopic residues of foetal apocrine glands. The nail appearance is highly polymorphic, including anonychia, brittle and/or furrowed ungueal alterations; others may be affected by dystrophic changes. Hypotrichosis also represents a major diagnostic criterion [2].

The minor diagnostic criteria feature the following: facial dysmorphism (birdface) [1] and multiple eccrine syringofibroadenomas on the palmoplantar hyperkeratotic areas [2, 3]. As far as we know, the histological alterations of the hair in our case have never been described before. None of the patient’s medications has been associated with the induction of pili torti.

SSP patients are prone to develop benign tumours such as eccrine poromas, tumours of the follicular infundibulum, precancerous keratoses, and eccrine syringofibroadenomas [4, 5]. Furthermore, basal cell and squamous cell carcinomas are not uncommon [1, 4]. Hence, long-term clinical surveillance is indicated [5]. The presence of multiple basal cell and squamous cell carcinomas in our patient may also be explained by long-term immunosuppressive therapy for cardiac transplantation. No specific treatment is available for SSP. Long term management involves dental, dermatological, and ophthalmological follow-up and is tailored individually. Although recurrences are frequent, surgery remains the treatment of choice for the eyelid cysts, eventually with a complete excision of the anterior lamella of the eyelid. Topical trichloracetic acid may be used, sometimes complicated by ectropion formation or corneal injury [6].

In conclusion, SSP is a rare genodermatosis of unknown pathogenesis. The pili torti appearance of the hair and the hair shaft narrowing have never been reported before and may represent a new criterion for diagnosis of SSP.

Acknowledgements

References

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