IllnessSchimmelpenning-Feuerstein-Mims syndrome, differential diagnosis

NGS +

Schimmelpenning-Feuerstein-Mims syndrome is a rare multisystem disorder characterized by sebaceous nevi associated with extra-cutaneous abnormalities affecting the brain, eyes and bones. The skin lesions appear at birth and are the most prominent feature of this syndrome. In most cases, there are multiple, predominantly linear nevi sebacei on the entire integument, but mainly on the head and neck (the oral mucosa may also be affected). Therefore, the syndrome is also called linear sebaceous nevus syndrome. Multiple melanocytic nevi appear then later in the course of life. Ocular changes like dermoid cysts, coloboma, corneal opacity, symblepharon and cerebral symptoms may occur such as cranial asymmetry, cerebral seizures and often mental retardation. Cases with hypophosphatemia of unexplained etiology are also observed with fractures, bone deformities, muscle weakness and pain. Somatic mosaic mutations in the HRAS, KRAS, and NRAS genes cause the syndrome. A small number of other genes are analyzed in the panel for differential diagnostic purposes.

References: https://www.ncbi.nlm.nih.gov/books/NBK559003/

https://www.ncbi.nlm.nih.gov/books/NBK51754/

• Alias: Costello syndrome (HRAS)
• Alias: Naevus sebaceus Typ Jadassohn
• Alias: Naevus sebaceus-Syndrom
• Alias: Schimmelpenning-Syndrom
• Alias: Solomon-Syndrom
• Alias: Talgdrüsennaevus Jadassohn
• Alleic: RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic (NRAS)
• Allelic: Arteriovenous malformation of the brain, somatic (KRAS)
• Allelic: Bladder cancer, somatic (KRAS)
• Allelic: Breast cancer, somatic (KRAS)
• Allelic: CK syndrome (NSDHL)
• Allelic: Cardiofaciocutaneous syndrome 2 (KRAS)
• Allelic: Colorectal cancer, somatic (NRAS)
• Allelic: Congenital myopathy with excess of muscle spindles (HRAS)
• Allelic: Epidermal nevus, somatic (NRAS)
• Allelic: Gastric cancer, somatic (KRAS)
• Allelic: Immunodeficiency 33 (IKBKG)
• Allelic: Leukemia, acute myeloid, somatic (KRAS)
• Allelic: Lung cancer, somatic (KRAS)
• Allelic: Melanocytic nevus syndrome, congenital, somatic (NRAS)
• Allelic: Neurocutaneous melanosis, somatic (NRAS)
• Allelic: Nevus sebaceous or woolly hair nevus, somatic (HRAS)
• Allelic: Noonan syndrome 3 (KRAS)
• Allelic: Noonan syndrome 6 (NRAS)
• Allelic: Oculoectodermal syndrome, somatic (KRAS)
• Allelic: Pancreatic carcinoma, somatic (KRAS)
• Allelic: RAS-associated autoimmune leukoproliferative disorder (KRAS)
• Allelic: Spitz nevus/nevus spilus, somatic (HRAS)
• Allelic: Thyroid carcinoma, follicular, somatic (HRAS, NRAS)
• CHILD syndrome (NSDHL)
• Chondrodysplasia punctata 2 (EBP)
• Ectodermal dysplasia + immunodeficiency 1 (IKBKG)
• Incontinentia pigmenti (IKBKG)
• MEND [Male EBP disorder with Neurologic Defects] syndrome (EBP)
• Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic (HRAS, KRAS, NRAS)
• Thyroid carcinoma, follicular, somatic (NRAS)