Phacomatosis pigmentokeratotica or the Schimmelpenning‐Feuerstein‐Mims syndrome?

Gamayunov, B.N.; Korotkiy, N.G.; Баранова, Е. Е.

doi:10.1002/ccr3.570

Cited by 6 publications

(3 citation statements)

References 9 publications

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“…Top-four PhiDsc predictions in HRAS were residues 12, 13, 74, and 93, which are known to be key functionals and often mutated in various cancer types (61). The domain comprising residues 12 and 13 is involved in Guanine Nucleotide Dissociation Inhibitor (GDI) interaction as well as interaction with GTP/Mg2+ (62), and is mostly detected in tumors such as bladder cancer (63), thyroid cancer(64), and other diseases such as Costello syndrome (61) and Schimmelpenning-Feuerstein-Mims syndrome (63, 65). Mutations in residue 74 are seen in endometrioid cancer and sebaceous carcinoma, while those in residue 93, have been discovered in only a small percentage of prostate cancer samples (66).…”

Section: Resultsmentioning

confidence: 99%

PhiDsc: Protein functional mutation Identification by 3D Structure Comparison

Hoballa

Eslahchi

2022

Preprint

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Selective pressures that trigger cancer formation and progression shape the mutational landscape of somatic mutations in cancer. Given the limits within which cells are regulated, a growing tumor has access to only a finite number of pathways that it can alter. As a result, tumors arising from different cells of origin often harbor identical genetic alterations. Recent expansive sequencing efforts have identified recurrent hotspot mutated residues in individual genes. Here, we introduce PhiDsc, a novel statistical method developed based on the hypothesis that, functional mutations in a recurrently aberrant gene family can guide the identification of mutated residues in the family's individual genes, with potential functional relevance. PhiDsc combines 3D structural alignment of related proteins with recurrence data for their mutated residues, to calculate the probability of randomness of the proposed mutation. The application of this approach to the RAS and RHO protein families returned known mutational hotspots as well as previously unrecognized mutated residues with potentially altering effect on protein stability and function. These mutations were located in, or in proximity to, active domains and were indicated as protein-altering according to six in silico predictors. PhiDsc is freely available at https://github.com/hobzy987/PhiDSC-DALI.

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Section: Resultsmentioning

confidence: 99%

PhiDsc: Protein functional mutation Identification by 3D Structure Comparison

Hoballa

Eslahchi

2022

Preprint

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“…The differential diagnoses are phacomatosis pigmentokeratotica, nevus comedonicus syndrome, and Proteus syndrome. 3 , 9 , 10…”

Section: Discussionmentioning

confidence: 99%

Do you know this syndrome? Schimmelpenning-Feuerstein-Mims syndrome

Lena

Kondo

Nicolacópulos

2019

An. Bras. Dermatol.

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Nevus sebaceous is the most common type of organoid epidermal nevus, often located on the face, following the Blaschko's lines and with alterations in the ipsilateral central nervous system. Distinct disorders can be distinguished by the type of association with epidermal nevus. Schimmelpenning-Feuerstein-Mims syndrome is a rare multisystem disorder characterized by sebaceous nevus associated with extracutaneous abnormalities affecting the brain, eyes and bones. We report the case of an 8-year-old female patient with a yellowish verrucous plaque on the left temporal area extending ipsilaterally to the cervical region, combined with cicatricial alopecia, periocular nodule, and epibulbar tumors.

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“…Variations in clinical phenotype and the degree of extracutaneous involvement are thought to be a result of the timing of the mutation during embryogenesis 2 . The majority of patients with PPK have extracutaneous involvement, most commonly ocular (strabismus and ptosis), neurologic (hemiparesis, hyperhidrosis, dysesthesia), and musculoskeletal (scoliosis, muscular weakness) abnormalities 4 . Approximately 30 cases of PPK have been reported in the literature, and fewer than 10 of these cases describe patients without extracutaneous involvement 5 …”

Section: Discussionmentioning

confidence: 99%