IllnessBrooke-Spiegler syndrome / CYLD cutaneous syndrome, differential diagnosis

NGS +

Brooke-Spiegler syndrome causes multiple familial trichoepitheliomas and familial cylindromatosis. Similarly, cutaneous CYLD syndrome is characterized by the growth of multiple benign skin tumors, including benign cylindromas, spiradenomas and trichoepitheliomas. Spiradenomas are related to cylindromas, and both benign growths occur in a single tumor. Trichoepitheliomas arise from hair follicles, typically around the nose and upper lip. Occasionally, these tumors can become malignant, grow rapidly and form ulcers. Affected individuals also have an increased risk of developing tumors in other tissues, such as benign or malignant tumors of the salivary glands. Typically, the tumors first appear in late childhood or teenage years, more often in females than in males, and most commonly on the head and neck. Tumors in the eyes, ears, nose or mouth can affect the senses. Less commonly, growths occur on the trunk, armpits or genitals. The latter can cause pain and sexual dysfunction. In rare cases, cylindromas develop in the respiratory tract and may cause respiratory insufficiency. The tumors in cutaneous CYLD syndrome can be disfiguring and contribute to depression or other psychological problems. The CYLD gene encodes an enzyme that helps regulate numerous signaling pathways, many of which are involved in cell growth and tumor suppression. Susceptibility to cutaneous CYLD syndrome is inherited in an autosomal dominant manner. Depending on phenotypic expression, the molecular diagnostic yield reaches >70%. However, a negative DNA test result does not exclude the clinical diagnosis.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK555820/

• Alias: Ancell-Spiegler cylindromas (CYLD)
• Alias: CYLD Cutaneous Syndrome
• Alias: Dermal eccrine cylindroma (CYLD)
• Alias: Familial Cylindromatosis
• Alias: Multiple Familial Trichoepithelioma
• Alias: Turban tumor syndrome (now denoted as confluent scalp tumors (CYLD)
• Allelic: Alopecia universalis (HR)
• Allelic: Colorectal cancer, somatic (FLCN)
• Allelic: Cowden syndrome 1 (PTEN)
• Allelic: Focal cortical dysplasia, type II, somatic (TSC1, TSC2)
• Allelic: Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 (CYLD)
• Allelic: Glioma susceptibility 2 (PTEN)
• Allelic: Holoprosencephaly 7 (PTCH1)
• Allelic: Leukemia, juvenile myelomonocytic (NF1)
• Allelic: Lymphangioleiomyomatosis (TSC1)
• Allelic: Lymphangioleiomyomatosis, somatic (TSC2)
• Allelic: Macrocephaly/autism syndrome (PTEN)
• Allelic: Meningioma (PTEN)
• Allelic: Pneumothorax, primary spontaneous (FLCN)
• Allelic: Prostate cancer, somatic (PTEN)
• Allelic: Renal carcinoma, chromophobe, somatic (FLCN)
• Atrichia with papular lesions (HR)
• Basal cell carcinoma, somatic (PTCH1)
• Basal cell nevus syndrome (PTCH1)
• Birt-Hogg-Dube syndrome (FLCN)
• Brooke-Spiegler syndrome (CYLD)
• Cylindromatosis, familial (CYLD)
• Hypotrichosis 4 (HRURF)
• Lhermitte-Duclos syndrome (PTEN)
• Nail disorder, nonsyndromic congenital, 3 [leukonychia] (PLCD1)
• Neurofibromatosis, familial spinal (NF1)
• Neurofibromatosis, type 1 (NF1)
• Neurofibromatosis-Noonan syndrome (NF1)
• Trichoepithelioma, multiple familial, 1 (CYLD)
• Tuberous sclerosis-1 (TSC1)
• Tuberous sclerosis-2 (TSC2)
• Watson syndrome (NF1)