Tegumentary manifestations of Noonan and Noonan-related syndromes
OBJECTIVES: Noonan and Noonan-related syndromes are common autosomal dominant disorders with neuro-cardio-facial-cutaneous and developmental involvement. The objective of this article is to describe the most relevant tegumentary findings in a cohort of 41 patients with Noonan or Noonan-related syndr...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
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Elsevier España
2013-01-01
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| Series: | Clinics |
| Subjects: | |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1807-59322013000801079&lng=en&tlng=en |
| _version_ | 1818112393241165824 |
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| author | Caio Robledo D'Angioli Costa Quaio Tatiana Ferreira de Almeida Amanda Salem Brasil Alexandre C. Pereira Alexander A. L. Jorge Alexsandra C. Malaquias Chong Ae Kim Debora Romeo Bertola |
| author_facet | Caio Robledo D'Angioli Costa Quaio Tatiana Ferreira de Almeida Amanda Salem Brasil Alexandre C. Pereira Alexander A. L. Jorge Alexsandra C. Malaquias Chong Ae Kim Debora Romeo Bertola |
| author_sort | Caio Robledo D'Angioli Costa Quaio |
| collection | DOAJ |
| description | OBJECTIVES: Noonan and Noonan-related syndromes are common autosomal dominant disorders with neuro-cardio-facial-cutaneous and developmental involvement. The objective of this article is to describe the most relevant tegumentary findings in a cohort of 41 patients with Noonan or Noonan-related syndromes and to detail certain aspects of the molecular mechanisms underlying ectodermal involvement. METHODS: A standard questionnaire was administered. A focused physical examination and a systematic review of clinical records was performed on all patients to verify the presence of tegumentary alterations. The molecular analysis of this cohort included sequencing of the following genes in all patients: PTPN1, SOS1, RAF1, KRAS, SHOC2 and BRAF. RESULTS: The most frequent tegumentary alterations were xeroderma (46%), photosensitivity (29%), excessive hair loss (24%), recurrent oral ulcers (22%), curly hair (20%), nevi (17%), markedly increased palmar and plantar creases (12%), follicular hyperkeratosis (12%), palmoplantar hyperkeratosis (10%), café-au-lait spots (10%) and sparse eyebrows (7%). Patients with mutations in PTPN11 had lower frequencies of palmar and plantar creases and palmar/plantar hyperkeratosis compared with the other patients. CONCLUSIONS: We observed that patients with mutations in genes directly involved in cell proliferation kinase cascades (SOS1, BRAF, KRAS and RAF1) had a higher frequency of hyperkeratotic lesions compared with patients with mutations in genes that have a more complex interaction with and modulation of cell proliferation kinase cascades (PTPN11). |
| first_indexed | 2024-12-11T03:18:13Z |
| format | Article |
| id | doaj.art-5e9a37c44ed847d8ad870db8094326ab |
| institution | Directory Open Access Journal |
| issn | 1980-5322 |
| language | English |
| last_indexed | 2024-12-11T03:18:13Z |
| publishDate | 2013-01-01 |
| publisher | Elsevier España |
| record_format | Article |
| series | Clinics |
| spelling | doaj.art-5e9a37c44ed847d8ad870db8094326ab2022-12-22T01:22:42ZengElsevier EspañaClinics1980-53222013-01-016881079108310.6061/clinics/2013(08)03S1807-59322013000801079Tegumentary manifestations of Noonan and Noonan-related syndromesCaio Robledo D'Angioli Costa QuaioTatiana Ferreira de AlmeidaAmanda Salem BrasilAlexandre C. PereiraAlexander A. L. JorgeAlexsandra C. MalaquiasChong Ae KimDebora Romeo BertolaOBJECTIVES: Noonan and Noonan-related syndromes are common autosomal dominant disorders with neuro-cardio-facial-cutaneous and developmental involvement. The objective of this article is to describe the most relevant tegumentary findings in a cohort of 41 patients with Noonan or Noonan-related syndromes and to detail certain aspects of the molecular mechanisms underlying ectodermal involvement. METHODS: A standard questionnaire was administered. A focused physical examination and a systematic review of clinical records was performed on all patients to verify the presence of tegumentary alterations. The molecular analysis of this cohort included sequencing of the following genes in all patients: PTPN1, SOS1, RAF1, KRAS, SHOC2 and BRAF. RESULTS: The most frequent tegumentary alterations were xeroderma (46%), photosensitivity (29%), excessive hair loss (24%), recurrent oral ulcers (22%), curly hair (20%), nevi (17%), markedly increased palmar and plantar creases (12%), follicular hyperkeratosis (12%), palmoplantar hyperkeratosis (10%), café-au-lait spots (10%) and sparse eyebrows (7%). Patients with mutations in PTPN11 had lower frequencies of palmar and plantar creases and palmar/plantar hyperkeratosis compared with the other patients. CONCLUSIONS: We observed that patients with mutations in genes directly involved in cell proliferation kinase cascades (SOS1, BRAF, KRAS and RAF1) had a higher frequency of hyperkeratotic lesions compared with patients with mutations in genes that have a more complex interaction with and modulation of cell proliferation kinase cascades (PTPN11).http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1807-59322013000801079&lng=en&tlng=enNoonanSkinTegumentTegumentary |
| spellingShingle | Caio Robledo D'Angioli Costa Quaio Tatiana Ferreira de Almeida Amanda Salem Brasil Alexandre C. Pereira Alexander A. L. Jorge Alexsandra C. Malaquias Chong Ae Kim Debora Romeo Bertola Tegumentary manifestations of Noonan and Noonan-related syndromes Clinics Noonan Skin Tegument Tegumentary |
| title | Tegumentary manifestations of Noonan and Noonan-related syndromes |
| title_full | Tegumentary manifestations of Noonan and Noonan-related syndromes |
| title_fullStr | Tegumentary manifestations of Noonan and Noonan-related syndromes |
| title_full_unstemmed | Tegumentary manifestations of Noonan and Noonan-related syndromes |
| title_short | Tegumentary manifestations of Noonan and Noonan-related syndromes |
| title_sort | tegumentary manifestations of noonan and noonan related syndromes |
| topic | Noonan Skin Tegument Tegumentary |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1807-59322013000801079&lng=en&tlng=en |
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