Schopf-Schulz-Passarge syndrome

Schöpf-Schulz-Passarge Syndrome (SSPS) Description

Schöpf-Schulz-Passarge syndrome, also known as SSPS, is a rare form of ectodermal dysplasia. Ectodermal dysplasias are a group of inherited disorders that affect the development of two or more structures derived from the ectoderm, including skin, hair, nails, teeth, and sweat glands.

SSPS is characterized by a combination of symptoms, which may include:

• Multiple eyelid apocrine hidrocystomas: These are cysts on the eyelids caused by abnormal growth of apocrine glands.
• Palmoplantar keratoderma: This refers to thickening of the skin on the palms and soles.
• Hypodontia: This is a condition where there is an absence or underdevelopment of teeth.
• Hypotrichosis: This is a condition where there is thinning or loss of hair.
• Nail dystrophy: This refers to abnormal growth or shape of the nails.

SSPS is caused by genetic mutations, which can be inherited from parents. The syndrome has an autosomal recessive inheritance pattern, meaning that both copies of the gene must be mutated for the condition to occur.

References:

• [1] Description of ectodermal dysplasias, including SSPS (Context #2)
• [2] Characteristics of SSPS, including multiple eyelid apocrine hidrocystomas and palmoplantar keratoderma (Context #3)
• [3] Genetic mutations causing SSPS (Context #4)
• [4] Clinical description of SSPS, including hypodontia and nail dystrophy (Context #5)

Schöpf-Schulz-Passarge Syndrome (SSPS) Signs and Symptoms

Schöpf-Schulz-Passarge syndrome is a rare autosomal recessive ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia, and nail dystrophy. The following are the common signs and symptoms of SSPS:

• Multiple Eyelid Apocrine Hidrocystomas: Characteristic epidermal cysts on the eyelids [7][8]
• Palmoplantar Keratoderma: Punctate symmetric palmoplantar keratoderma, with the keratoderma and fragility of the nails beginning around age 12 [1][2][13]
• Hypodontia: Hypodontia, or the absence of teeth [3][5][9]
• Hypotrichosis: Hypotrichosis, or thinning of the hair [3][5][9]
• Nail Dystrophy: Nail dystrophies, including fragility and brittleness [1][2][13]
• Delayed Bone Maturation: Delayed bone maturation [7]

These symptoms can vary in severity and may be accompanied by other features such as bird-like facies, epidermal cysts on the eyelids, palmoplantar keratoderma, hypodontia, hypotrichosis, nail dystrophy, and delayed bone maturation.

References:

[1] Schöpf-Schulz-Passarge syndrome is an autosomal recessive condition with punctate symmetric palmoplantar keratoderma, with the keratoderma and fragility of the nails beginning around age 12. [2] In addition to palmoplantar keratoderma, other symptoms include hypodontia, hypotrichosis, nail dystrophies, and eyelid cysts (apocrine hidrocystomas).

[3] 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.

[5] Schöpf-Schulz-Passarge syndrome (SSPS) is a form of ectodermal dysplasia. Ectodermal dysplasias are a group of inherited disorders which show similar features of developmental abnormalities in two or more of the following structures: hair, teeth, nails, sweat glands, and other ectodermal-derived structures.

[7] A 36-year-old male presented with multiple eyelid and periocular apocrine hidrocystomas. [8] Characteristic epidermal cysts on the eyelids.

[9] 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.

[13] Schöpf-Schulz-Passarge syndrome is an autosomal recessive condition with punctate symmetric palmoplantar keratoderma, with the keratoderma and fragility of the nails beginning around age 12. In addition to palmoplantar keratoderma, other symptoms include hypodontia, hypotrichosis, nail dystrophies, and eyelid cysts (apocrine hidrocystomas).

Diagnostic Tests for Schöpf-Schulz-Passarge Syndrome

Schöpf-Schulz-Passarge syndrome (SSPS) is a rare autosomal recessive ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia, and nail dystrophy. While there are no specific diagnostic tests for SSPS, the condition can be diagnosed based on clinical evaluation and genetic testing.

• Clinical Evaluation: The diagnosis of SSPS is primarily based on clinical evaluation by a dermatologist or other healthcare professionals. The cardinal feature of SSPS is the presence of multiple eyelid apocrine hidrocystomas, which are benign cysts that appear as small, round, or oval lesions on the eyelids.
• Genetic Testing: Genetic testing can be arranged to confirm the diagnosis of SSPS. This involves analyzing DNA samples from affected individuals and their family members to identify mutations in the WNT10A gene, which is associated with SSPS (6).
• Other Diagnostic Tests: While not specific for SSPS, other diagnostic tests may be used to rule out other conditions that present similar symptoms. These include:
  • Trans-illumination test of the cyst revealed diffuse red glow in the lesion (2)
  • Oozing of clear serous fluid on piercing a small cyst with a sharp needle (2)
  • Blood samples analysis for molecular genetic analysis (9)

References

• [3] Schöpf-Schulz-Passarge syndrome (SSPS) is a rare autosomal recessive ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy.
• [6] Genetic analysis to provide a molecular diagnosis of this disorder. Recommended for individuals with a personal and/or family history of this disorder to ensure accurate diagnosis.
• [9] Blood samples of all 14 participants were taken and analysed in the same manner. For molecular genetic analysis patients' DNA was extracted.

Note: The diagnostic tests mentioned above are not specific for SSPS, but rather used as part of the clinical evaluation and genetic testing process to confirm the diagnosis.

Unfortunately, there is no effective treatment for Schopf-Schulz-Passarge syndrome (SSPS) [14][15]. However, based on the search results, it appears that there are some general health considerations and management strategies that can be implemented to help manage the symptoms of SSPS.

• Oral hygiene: Regular dental care is essential to prevent oral infections and promote overall oral health. This includes regular brushing, flossing, and dental check-ups [13].
• Skin care: Gentle skin care practices can help manage skin-related symptoms such as palmoplantar keratoderma and apocrine hidrocystomas.
• Infection prevention: Regular cleaning of the skin and eyelids can help prevent infections. Antibiotics may be prescribed to treat any infections that do occur [14].
• Pain management: Pain relief medications may be necessary to manage pain associated with nail dystrophy, hypodontia, or other symptoms.

It's essential to note that these are general health considerations and not specific treatments for SSPS. The lack of effective treatment options highlights the need for further research into this rare condition.

References:

[13] Without treatment, most of the permanent teeth may also be lost by approximately age 17 years. Other clinical features include frequent pyogenic skin infections, nail dystrophy, and hyperhidrosis. [14] 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. [15] 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.

Differential Diagnoses for Schöpf-Schulz-Passarge Syndrome

Schöpf-Schulz-Passarge syndrome (SSPS) is a rare type of ectodermal dysplasia, and as such, it can be challenging to diagnose. However, there are several differential diagnoses that should be considered when evaluating patients with symptoms similar to those of SSPS.

Key Differential Diagnoses:

• Odonto-onycho-dermal dysplasia (OODD): This is a rare genetic disorder characterized by abnormalities in the development of teeth, nails, and skin. Like SSPS, OODD can present with palmoplantar keratoderma, hypodontia, and nail dystrophy.
• Palmoplantar keratoderma: This is a group of disorders that affect the palms and soles, causing thickening of the skin. While not necessarily associated with ectodermal dysplasia, palmoplantar keratoderma can be a feature of SSPS.

Other Considerations:

• Genodermatoses: These are rare genetic disorders that affect the skin and other ectodermal tissues. Some genodermatoses may present with similar symptoms to SSPS, such as palmoplantar keratoderma and dental abnormalities.
• Tumors: In some cases, tumors such as eccrine poromas or basal cell carcinoma may be associated with SSPS.

References:

• [3] Differential diagnosis of Schöpf-Schulz-Passarge syndrome include other genodermatoses comprising palmoplantar keratoderma and dental abnormalities. Benign or malignant tumors are frequently associated.
• [9] differential diagnoses considered were odonto-onycho-dermal dysplasia (OODD) and SSPS.
• [13] The main differential diagnoses considered were odonto-onycho-dermal dysplasia (OODD) and SSPS.

It's essential to note that a comprehensive evaluation by a qualified healthcare professional, including a thorough medical history, physical examination, and diagnostic tests, is necessary to accurately diagnose Schöpf-Schulz-Passarge syndrome.