According to this theory, genetic alterations are present in only some of the body's cells, most likely due to the mutation of a gene that occurs after fertilization (postzygotic mutation).7,8 The involvement of only one of the twin sisters in the present [ncbi.nlm.nih.gov]

Clinical Presentation: Characterized by a triad of sebaceous nevi, developmental delay, and seizure disorder with neurologic findings evident in more than half of cases The characteristic skin lesion is present at birth in most patients but becomes most [ajnr.org]

Written informed consent was obtained for the photographs presented in this case report. 2. [hindawi.com]

Figures Figure 1 Patient presents with verrucous plaques on the left temporal region of the scalp extending to the ipsilateral cervical area. [pubmed.ncbi.nlm.nih.gov]

We are presenting a case of an 18-year-old patient with systemic features of the SFM syndrome and an extensive linear nevus sebaceous partially removed with a carbon dioxide (CO2) laser. [read.qxmd.com]

• Precocious Puberty

  As part of these manifestations, rarely, central precocious puberty can arise. [hindawi.com]

  Association of Central Precocious Puberty with a Rare Presentation of Schimmelpenning-Feuerstein-Mims Syndrome in a Peruvian Girl. [pubmed.ncbi.nlm.nih.gov]

  Ivker R, Resnick S, Skidmore RA: Hypophosphatemic vitamin-D-resistant rickets, precocious puberty, and the epidermal nevus syndrome. Arch Dermatol 1997;133:1557–1561. [karger.com]

  CrossRef PubMed CAS Google Scholar Moss C, Parkin JM, Comaish JS (1991) Precocious puberty in a boy with widespread linear epidermal naevus. Brit J Dermatol 125: 178–182. [link.springer.com]

• Coarctation of the Aorta

  Heart Defects Cardiac defects such as coarctation of the aorta have also been known to occur. [news-medical.net]

  […] of the aorta, aortic hypoplasia), endocrine (hypophosphatemic rickets), and dental alterations (hemi-hyperplasia of the tongue, bone cysts, aplasia of the teeth, hypoplastic enamel), and neoplasms (basal cell carcinoma) may be present.2 Thus, the use [ncbi.nlm.nih.gov]

  Cardiovascular abnormalities include ventricular septal defect and coarctation of the aorta; urinary system issues include horseshoe kidney and duplicated urinary collection system.[2] Genetic[edit] Schimmelpenning syndrome appears to be sporadic rather [en.wikipedia.org]

• Falling

  This neurocutaneous disorder is characterized by a craniofacial nevus sebaceus that falls along embryonic cutaneous lines and tends to be associated with neurological, ocular, skeletal, and vascular abnormalities. [3] This rare disorder represents a mosaic [emedicine.medscape.com]

• Osteopenia

  Generalized weakness, osteopenia, and intracranial aneurysms are features in some patients. Bone involvement may be highly asymmetrical. [disorders.eyes.arizona.edu]

  The spectrum of bone changes in NSS includes local defects, irregularities in the bone contour and surface (20), altered size of individual bones, in particular bony enlargement (79), and more generalized findings such as osteopenia and hypophosphatemia [iv.iiarjournals.org]

• Cranial Asymmetry

  The nervous central system compromise include seizures, mental retardation and anatomyc alterations that involve cranial asymmetry, hemimegalencephaly with asymmetric and dilated ventricles and calcium deposit. [medigraphic.com]

• Seizure

  The disorder consists of a triad of linear sebaceous nevus, seizures and mental retardation. [neurologyindia.com]

  A 10-year-old girl with recurrent seizures since 8 months of age, global developmental delay, periorbital skin tags, and bilateral microcornea View Case Read more about 11072019 Comments [ajnr.org]

  Central Nervous System The linear sebaceous nevus is associated with various central nervous system anomalies, such as seizures, mental retardation, or hemimegalencephaly. [news-medical.net]

  The nervous central system compromise include seizures, mental retardation and anatomyc alterations that involve cranial asymmetry, hemimegalencephaly with asymmetric and dilated ventricles and calcium deposit. [medigraphic.com]

  Detail of epibulbar tumors At three months of age, after an epileptic seizure, a 6 by 5 cm arachnoid cyst was discovered in the patient's left middle cranial fossa (Figure 3). [ncbi.nlm.nih.gov]

Treatment Treatment Options: No treatment is available for the generalized disease but therapy for specific symptoms such as epilepsy may be helpful. Read more about Organoid Nevus Syndrome [disorders.eyes.arizona.edu]

The treatment options of skin lesions in patients with SFM are discussed. Find Full Text Links for this Article Related Papers [read.qxmd.com]

Treatment of SFM syndrome relies on standard procedures for specific symptomatic relief. SFM syndrome is a RASopathy that results from mosaicism secondary to postzygotic mutations in the HRAS, KRAS, and NRAS genes during the early embryonic period. [taylorfrancis.com]

Meyer for photographic documentation of surgical treatment. [iv.iiarjournals.org]

[…] with papular nevus spilus (checkerboard pattern) nevus comedonicus syndrome: ipsilateral cataract Becker nevus syndrome: breast hypoplasia; does not follow Blaschko's line pattern Proteus syndrome: cerebriform plantar lesions; asymmetric macrodactyly Treatment [ajnr.org]

Prognosis The prognosis depends on the presence and the severity of any of a variety of associated internal defects. Mortality and morbidity are related to the associated systemic anomalies. [emedicine.medscape.com]

Etiology Schimmelpenning syndrome is caused by sporadic (not inherited) somatic mutations in a cell belonging to the ectodermal germline in the embryo. This is a post-zygotic mutation, and usually affects the HRAS, KRAS and NRAS genes. [news-medical.net]

The etiology of SSFM is still unknown, but genomic mosaicism has been proposed. [ncbi.nlm.nih.gov]

Etiology The basis of the cause may be the activation of an autosomal dominant lethal mutation that survives by mosaicism. [emedicine.medscape.com]

Epidemiology Frequency The syndromes are uncommon. [emedicine.medscape.com]

Pathophysiology Epidermal nevi arise from pluripotential germinative cells of the basal layer of the embryonic epidermis. [emedicine.medscape.com]

Specific therapy of hypophosphatemic rickets is straightforward and efficient in preventing late complications like growth retardation. [pubmed.ncbi.nlm.nih.gov]

(G) The maxillary mucosal alteration involves the entire right part of the upper jaw, respects the median sagittal plane as the limit of spread and has prevented the development of palatal rugae. [iv.iiarjournals.org]