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Cerebriform plantar hyperplasia: the major cutaneous feature of Proteus syndrome. , 6 6 Schepis C, Greco D, Siragusa M, Romano C. A child with mental retardation and asymmetrical hypertrophy of limbs. , 5 5 Sethi SK, Yadav D, Garg P, Chawla J, Goyal D.
PROTEUS SYNDROME SKIN
Macrodactyly with skin hypertrophy: a minimal form of the Proteus syndrome. The lesion locations and intensity vary significantly among patients, and are sometimes limited, which makes the diagnosis difficult. In most cases, it first appears at 6-18 months of age in an irregular, progressive manner, as shown in the patient described here, who, as the months went by, showed an increase in the discrepancy between the limbs. 5 5 Sethi SK, Yadav D, Garg P, Chawla J, Goyal D. Proteus syndrome is mostly characterized by a postnatal asymmetric overgrowth that might affect many tissues, and it is barely noticeable at birth. Proteus syndrome: three case reports with a review of the literature. 10 10 Thomason JL, Abramowsky CR, Rickets RR, Culbertson JH, Clifton MS, Shehata BM. The Proteus syndrome diagnosis was established by the clinical findings described above, more specifically, plantar cerebriform hyperplasia associated with the patterns of the lesion: mosaic distribution, progressive course, and sporadic occurrence. Doppler echocardiography revealed patent foramen ovale and atrial septal defect, without hemodynamic repercussion. Karyotype test, abdomen ultrasound, and Doppler ultrasound of the upper and lower limbs and nuclear magnetic resonance of the skull showed no alterations. (A) Port-wine stains at birth (B) Clearing of stains at 2 years of age Physical examination revealed macromelia of the upper and lower right limbs, syndactyly involving the 2 nd and 3 rd toes, and wide space between the 1 st and 2nd toes, bilaterally ( Figures 1- 3). CASE REPORTĪ 2-year-old brown male patient showed discrete asymmetry of the right hemibody in relation to the left one at birth, which increased over the months. Its rare occurrence justifies this report. Less than 100 cases have been reported in the literature. This syndrome is poorly described, and has an estimated prevalence ranging from 1:1,000,000-1:10,000,000 population. 6 6 Schepis C, Greco D, Siragusa M, Romano C. Several allelic mutations occur at the locus of the gene responsible for the Proteus syndrome, which triggers the somatic tissue overgrowth. Origins of the elephant man: mosaic somatic mutations cause Proteus syndrome. It might be associated with mosaicism with a somatic activating mutation in the AKT1 gene, located at chromosome 14q32.3. Neurognostics question metamorphosis of a man: diagnosing Joseph Merrick. The earliest case of Proteus syndrome was reported by Joseph Merrick and described by Treves, in the 19 th century.
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6 6 Schepis C, Greco D, Siragusa M, Romano C. ĥ Sethi SK, Yadav D, Garg P, Chawla J, Goyal D. Seattle (WA): University of Washington, Seattle 1993-2014. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, et al., editors. It was described by Cohen and Hayden as a distinct clinical entity in 1979, but it was only in 1983 that Wiedeman would give its name. The challenges of Proteus syndrome: diagnosis and management. Proteus syndrome is a rare, congenital hamartomatous syndrome that causes asymmetric and disproportionate overgrowth of limbs, connective tissue nevi, epidermal nevi, dysregulated adipose tissue, and vascular malformations.