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Brooke-Spiegler syndrome
ICD-10 Codes
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Description
Brooke-Spiegler Syndrome: A Rare Genetic Condition
Brooke-Spiegler syndrome (BSS) is a rare genetic condition characterized by the growth of multiple noncancerous (benign) skin tumors. These tumors develop from structures associated with the skin, such as hair follicles and sweat glands.
Key Features of BSS:
- Autosomal Dominant Inheritance: BSS is inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is enough to cause the condition.
- Multiple Skin Tumors: People with BSS develop multiple benign skin tumors, including cylindromas, spiradenomas, and trichoepitheliomas.
- Skin Appendage Tumors: The tumors associated with BSS are derived from skin appendages, such as hair follicles and sweat glands.
References:
- [1] Brooke-Spiegler syndrome (BSS) is a rare genetic condition resulting in a range of tumours derived from skin appendages. [2]
- Brooke-Spiegler syndrome (BRSS or BSS) is an inherited predisposition syndrome presenting with skin appendage tumors, namely cylindromas, spiradenomas and trichoepitheliomas. [7]
- Brooke-Spiegler syndrome is a condition involving multiple skin tumors that develop from structures associated with the skin (skin adnexa). [8]
Note: The above information is based on the search results provided in the context.
Additional Characteristics
- Benign skin tumors
- Multiple noncancerous skin growths
- Skin appendage tumors
- Cylindromas, spiradenomas, and trichoepitheliomas
- Tumors derived from hair follicles and sweat glands
Signs and Symptoms
Symptoms of Brooke-Spiegler Syndrome
Brooke-Spiegler syndrome (BSS) is a rare genetic disorder characterized by the growth of tumors on the skin, particularly on the head and neck. The main symptoms of BSS are:
- Tumors on the skin: These tumors usually first appear on the scalp, face, or neck.
- Multiple cylindromas: Cylindromas are a type of tumor that is typically slow-growing, firm, rubber-like, and pinkish in color. They often have prominent telangiectases (small blood vessels).
- Spiradenomas: Spiradenomas are another type of tumor associated with BSS.
- Skin appendage tumors: BSS is characterized by the growth of skin appendage tumors, including cylindromas, spiradenomas, and trichoepitheliomas.
Other symptoms
In addition to these primary symptoms, individuals with BSS may also experience:
- Abnormalities of the face, neck, and scalp: These can include changes in the shape or size of these areas.
- Skin lesions: The tumors associated with BSS can cause skin lesions that may be painful or tender.
References
- [3] A rare, inherited disorder in which tumors form in the hair follicles and sweat glands in the skin. The tumors usually occur on the head and neck, ...
- [4] Jan 12, 2022 — Brooke-Spiegler syndrome is a rare genodermatosis characterized by a triad of cutaneous adnexal tumors: cylindromas, spiradenomas, ...
- [8] Brooke-Spiegler syndrome (BSS) is an inherited predisposition syndrome presenting with skin appendage tumors, namely cylindromas, spiradenomas and ...
Additional Symptoms
- Skin lesions
- Skin appendage tumors
- Tumors on the skin
- Multiple cylindromas
- Spiradenomas
- Abnormalities of the face, neck, and scalp
Diagnostic Tests
Brooke-Spiegler syndrome, also known as Familial Cylindromatosis, is a rare genetic disorder characterized by the growth of multiple benign skin tumors.
Diagnostic Tests
To diagnose Brooke-Spiegler syndrome, several diagnostic tests can be performed:
- Skin Biopsy: A skin biopsy is required to confirm the diagnosis. This involves removing a sample of cells from one of the skin tumors for microscopic examination.
- Genetic Testing: Genetic testing can help confirm the diagnosis by identifying mutations in the CYLD gene, which is associated with Brooke-Spiegler syndrome.
Additional Tests
Other tests that may be performed to aid in the diagnosis include:
- Molecular Genetics Tests: These tests can identify deletions or duplications of genetic material, targeted variant analysis, mutation scanning of select exons, and sequence analysis of the CYLD gene.
- Sequence Analysis: This test involves analyzing the entire coding region of the CYLD gene to identify any mutations.
Diagnostic Criteria
The diagnosis is based on symptoms, clinical examination, and microscopic examination of tumor tissue, with genetic testing helping to confirm the diagnosis [9].
It's worth noting that Brooke-Spiegler syndrome is not curable, but early detection and treatment can help manage the condition [3].
Additional Diagnostic Tests
- Skin Biopsy
- Genetic Testing
Treatment
Brooke-Spiegler syndrome, also known as Brooke-Spiegler tumor or cylindromatosis, is a rare genetic disorder characterized by the development of multiple skin tumors called cylindromas.
Medical treatment options for Brooke-Spiegler syndrome:
- Sodium salicylate and prostaglandin A1 have been used to treat this condition [3].
- A combination of aspirin and adalimumab has also been proposed as a treatment option [3].
- Topical imiquimod has been explored as a potential treatment for individual tumors [3].
Other treatments:
- Electrodesiccation/curettage and cryotherapy have been used to treat small cylindromas [8].
- Carbon dioxide laser may be used for small lesions [8].
- Bleomycin ECT represents an effective scalp-sparing alternative treatment for scalp cylindroma in patients with Brooke–Spiegler syndrome [9].
Note: It's essential to consult a medical professional for personalized advice on treating Brooke-Spiegler syndrome, as the most suitable treatment option may vary depending on individual circumstances.
References: [3] - by W Mohiuddin · 2018 · Cited by 22 [8] - Nov 8, 2019 — Other treatments include electrodesiccation/curettage and cryotherapy. For small cylindromas, the carbon dioxide laser may be used. [9] - by A Bonadies · 2023 · Cited by 4
Recommended Medications
- Cryotherapy
- Sodium salicylate
- Prostaglandin A1
- Topical imiquimod
- curettage
- acetylsalicylic acid
- Aspirin
- carbon dioxide
- Carbon Dioxide
- bleomycin
- Bleomycin
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
Brooke-Spiegler syndrome (BSS) is a rare autosomal dominant disorder characterized by the presence of various adnexal tumors, including cylindromas, spiradenomas, and trichoepitheliomas [3]. When considering a differential diagnosis for BSS, several conditions should be taken into account.
- Basal Cell Carcinoma: While basal cell carcinoma is not directly related to BSS, it can present with similar skin lesions. However, the presence of multiple adnexal tumors and a family history of BSS can help differentiate it from basal cell carcinoma [7].
- Blue Nevi: Blue nevi are benign pigmented lesions that can be mistaken for BSS. However, blue nevi typically do not have a family history or present with multiple adnexal tumors [7].
- Dermatofibroma: Dermatofibromas are benign skin growths that can be confused with BSS. However, dermatofibromas are usually solitary and lack the characteristic adnexal tumors seen in BSS [7].
- Follicular Infundibulum Tumor: Follicular infundibulum tumors are rare adnexal neoplasms that can present similarly to BSS. However, they typically do not have a family history or multiple adnexal tumors [8].
- Microcystic Adnexal Carcinoma: Microcystic adnexal carcinoma is a rare skin cancer that can be mistaken for BSS. However, it typically presents with a more aggressive clinical course and lacks the characteristic adnexal tumors seen in BSS [7].
- Mixed Tumors: Mixed tumors are benign or malignant neoplasms that can contain multiple tissue types. They can be confused with BSS, but they typically do not have a family history or present with multiple adnexal tumors [8].
In summary, when considering a differential diagnosis for Brooke-Spiegler syndrome, it is essential to take into account the presence of multiple adnexal tumors, a family history of BSS, and the characteristic clinical presentation of each condition.
References:
[3] Jul 22, 2024 — Individuals with BRSS may develop several types of adnexal tumors, most commonly spiradenomas, cylindromas, and trichoepitheliomas (the last ...
[7] Nov 8, 2019 — Differential Diagnoses · Basal Cell Carcinoma · Blue Nevi · Dermatofibroma · Follicular Infundibulum Tumor · Microcystic Adnexal Carcinoma · Mixed ...
[8] by P Layegh · 2008 · Cited by 21 — The Brooke-Spiegler syndrome (BSS) is an uncommon autosomal dominant disorder characterized by a high affinity to form multiple adnexal neoplasia (skin ...
Additional Differential Diagnoses
- nevoid basal cell carcinoma syndrome 2
- BASAN syndrome
- epidermal appendage tumor
- Blue Nevi
- Dermatofibroma
- Microcystic Adnexal Carcinoma
- Mixed Tumors
- basal cell carcinoma
- follicular infundibulum tumor
Additional Information
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- A skin disease that is characterized by the development of several types of tumors from the skin, has_material_basis_in heterozygous mutation in the CYLD gene on chromosome 16q12.
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It is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare provider with questions about your medical condition.