Schopf-Schulz-Passarge Syndrome.

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 2a]. The palms and soles had a diffuse keratoderma [Figure 2b], 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 2c]. 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

Cystic nodules on the lateral periocular area with tiny beaded papules on the eyelid margins

Figure 2

(a) Clinical photograph of the legs showing ichthyosis. (b) Keratoderma affecting the palms. (c) Hypodontia, smooth red tongue, and nail dystrophy

Figure 3

Trans-illumination test showing diffuse red glow in the lesion

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 [Figure 4a and b]. 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 [Figure 4c], 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.

Figure 4

(a) Cyst lined with smooth, thin epithelium; few areas show decapitation secretion. (hematoxylin and eosin ×10). (b) Lining epithelium showing decapitation secretion (hematoxylin and eosin ×40). (c) Thinning of the epidermis with absence of granular layer (hematoxylin and eosin ×10)

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).

Discussion

SSPS is a rare type of ectodermal dysplasia which was first described in the year 1971.[1] Ectodermal dysplasias are a group of inherited disorders that show similar 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 although other mechanisms of inheritance have also been suggested and sporadic cases have also been described. It is characterized by palmoplantar keratoderma, hypodontia, hypotrichosis, nail dystrophy, and multiple periocular and eyelid apocrine hidrocystomas.[2] The other features described are telangiectatic facial skin papules, multiple tumors with follicular differentiation, bilateral early senile cataract, arteriosclerotic fundi, optic atrophy, and myopia.

The phenotypic spectrum of SSPS may be variable in severity making milder, limited, and isolated forms difficult to diagnose. The usual age at diagnosis ranges from 35 to 80 years with a mean age at diagnosis of 64 years. The most consistent feature of this syndrome is eyelid apocrine hidrocystoma which was seen in all the cases (100%) described in literature.[3] These lesions appear in adulthood and are asymptomatic causing the delay in diagnosis. Apocrine hidrocystomas are benign neoplasms of the apocrine glands. They are cystic lesions which show fluctuation and transillumination. Histologically, they are characterized by a smooth, thin lining of double layer of cells; few cells show characteristic decapitation secretion. In large and long-standing cysts, the secretions may compress the lining and give an appearance of eccrine hidrocystomas. It is hypothesized that the formation of the cyst is a result of a proliferative mechanism or apocrine duct obstruction which leads to the formation of a retention cyst.

Palmoplantar keratoderma present in SSPS is usually diffuse with occasional occurrence of keratotic papules on a background of hyperkeratosis. The differential diagnosis of palmoplantar keratoderma is discussed in Table 1. Histology from keratotic lesions may reveal compact hyperkeratosis and proliferation of acrosyringeal epithelium to form irregular anastomosing strands in the dermis which are consistent with eccrine syringofibradenoma (ESFA).

Table 1

Differential diagnosis of palmoplantar keratoderma, ichthyosis, and other anomalies

Abnormal dentition is another feature found in a majority of the patients. There may be oligodontia (absence of many teeth, usually associated with small size of the existing teeth and other anomalies), hypodontia (developmental absence of one or more teeth either primary or permanent dentition), or anodontia (congenital absence of teeth) and hypoplasia of the alveolar processes.

SSPS may be associated with other benign cutaneous conditions such as benign acanthoma, apocrine and eccrine hidrocystomas, eccrine poroma, follicular infundibulum tumor, ESFA, and milia. Malignant tumors frequently associated with SSPS are basal cell carcinoma, porocarcinoma, malignant ESFA (mESFA), and squamous cell carcinoma.[3] However, the neoplastic risk in SSPS is controversial and few authors believe it is not a true cancer-prone syndrome[3] and the life expectancy is normal.

Syndromes with multiple adnexal tumors include Cowden (trichilemmomas), Muirr–Torre (sebaceous adenomas, sebaceous epithelioma, and carcinoma), and Birt–Hogg–Dube syndrome (fibrofolliculoma, trichodiscoma).

The cutaneous phenotype similar to SSPS may be found in odonto-onycho-dermal dysplasia (OODD) which is also an autosomal recessive ectodermal dysplasia characterized by severe oligodontia, nail dystrophy, hypotrichosis, erythematous lesions of the face, smooth tongue with reduced fungiform and filiform papillae, and palmoplantar hyperkeratosis with increased sweating, but lacks the characteristic eyelid cysts.[4]

Our patient had multiple eyelid and periocular apocrine cysts, palmoplantar keratoderma, nail dystrophy, and oligodontia with smooth tongue devoid of papillae. Hence, the case was diagnosed with SSPS with clinically overlapping features of OODD (smooth tongue with loss of fungiform and filiform papillae).

Genetic research has revealed that SSPS results from mutations in WNT10A gene located at 2q35. This gene acts as a principal signaling molecule for regulation of cell–cell interactions which are involved in multiple developmental processes in embryogenesis.

It acts through inhibition of β-catenin degradation complex and is involved in tooth and hair follicle morphogenesis. However, 16 different WNT10A mutations have been reported and considerable clinical and molecular overlap exists between SSPS and OODD.[5]

There is no effective treatment for SSPS. Apocrine hidrocystomas can be treated with electrocautery. PPK can be treated with emollients and keratolytics. Nail and hair cosmesis may be provided for a concerned patient. Regular dental check-up and dental prosthesis must be provided to a patient. The clinical manifestations of ectodermal dysplasia can cause many social problems in the affected individuals. Psychological, social support, and genetic counselling should be offered to the patient.

Hence, in patients with eyelid apocrine hidrocystomas, a careful and complete cutaneous examination may be warranted and the need of regular follow-up for early diagnosis of other associated adnexal skin tumors is impressed upon.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

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Conflicts of interest

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