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1.
J Med Case Rep ; 18(1): 431, 2024 Sep 17.
Artigo em Inglês | MEDLINE | ID: mdl-39285486

RESUMO

BACKGROUND: Tinea versicolor is a very common condition. We reported a specific follicular manifestation and proposed that this particular presentation might be related to the patient's history of previous keratosis pilaris. CASE PRESENTATION: A 46-year-old Asian woman of Han ethnicity presented to the clinic with trunk lesions for over a year. On physical examination: multiple light brown patches of varying size centered on hair follicles in the axillae and trunk, with the patches on the back fusing together and scales visible on the surface of the patches. Finally, through fungal microscopy and pathological examination, the patient was diagnosed with folliculocentric tinea versicolor. CONCLUSIONS: Follicular tinea versicolor is a rare type of tinea versicolor. It is still not clear what causes tinea versicolor to become folliculocentric. This case may suggest that patients with a history of keratosis pilaris may have a tendency to develop follicular centration in the course of other diseases.


Assuntos
Tinha Versicolor , Humanos , Feminino , Pessoa de Meia-Idade , Tinha Versicolor/diagnóstico , Tinha Versicolor/tratamento farmacológico , Antifúngicos/uso terapêutico , Folículo Piloso/patologia , Doença de Darier/diagnóstico , Doença de Darier/patologia , Anormalidades Múltiplas , Sobrancelhas/anormalidades
2.
Sci Rep ; 14(1): 21530, 2024 09 15.
Artigo em Inglês | MEDLINE | ID: mdl-39278974

RESUMO

Studies on the muscular-deep fascial system which connects the upper eyelid, brow, and glabella, are lacking. This study aimed to explore the fine anatomy of the muscular-deep fascial system in the region between the eyebrow and the superior orbital margin. We included eight formalin-phenol-embalmed cadavers (16 sides of specimens), and categorized them into anatomical dissections and histological sections. Five cadavers (10 sides) were dissected for gross anatomical observation, whereas all soft tissues of the other three cadavers (6 sides) were dissected for tissue sectioning and histological analysis. Three tissue blocks and 16 strips in each block were trimmed, numbered, and sliced into these specimens. Hematoxylin-Eosin and Masson's Trichrome staining were performed. In the region between the eyebrow and the superior orbital margin, the frontalis was covered by the orbicularis oculi. Fibers of the frontalis muscle penetrated into the orbicularis oculi muscle bundles, and crosslinked around the eyebrow level. Both the frontalis and the orbicularis oculi were attached to the thickened multilayered deep fascia in this region, which could be regarded as the muscular-deep fascial system. The muscular-deep fascial system connects the frontalis deep fascia and deep forehead compartments down to the orbicularis-supporting ligament. The precise anatomy of the muscular-deep fascial system in the region between the eyebrow and the superior orbital margin may provide a valuable reference for soft-tissue fixation and suspension in facial surgery.


Assuntos
Cadáver , Fáscia , Órbita , Humanos , Órbita/anatomia & histologia , Fáscia/anatomia & histologia , Masculino , Feminino , Idoso , Músculos Faciais/anatomia & histologia , Pálpebras/anatomia & histologia , Idoso de 80 Anos ou mais , Sobrancelhas/anatomia & histologia , Pessoa de Meia-Idade
3.
Ann Plast Surg ; 93(3): 397-401, 2024 Sep 01.
Artigo em Inglês | MEDLINE | ID: mdl-39150844

RESUMO

INTRODUCTION: Gliding brow lift (GBL) has become one of the most popular techniques for eyebrow lifting in recent years. Despite the widespread use of the technique, there are a few publications in the literature. This systematic review was conducted to present current data on GBL and determine its place among brow lift procedures. METHOD: GBL-related studies were searched in PubMed, Google Scholar, Web of Science, and Scopus databases. The screening was carried out from January 2019 to December 2023. All publications in which GBL was performed alone or in combination with other facial rejuvenation procedures or in which the results related to the technique were included. RESULTS: Sixty-three publications were evaluated, and four met the review criteria. The total number of patients who underwent GBL was 181. Most studies were retrospective case series and had a low level of evidence. It was observed that the evaluation parameters were mostly subjective. The technique was found to be generally effective and had low complication rates. CONCLUSIONS: Although this systematic review shows that GBL is an effective and low-complication technique for a brow lift, there is a need to share prospective, more extensive case series and objective data of patients with longer follow-up periods.


Assuntos
Sobrancelhas , Ritidoplastia , Humanos , Ritidoplastia/métodos , Rejuvenescimento
4.
Dermatol Surg ; 50(9S): S80-S84, 2024 Sep 01.
Artigo em Inglês | MEDLINE | ID: mdl-39196839

RESUMO

BACKGROUND: The aesthetic dimension of transgender experiences involves various aspects linked to the visual representation and expression of one's gender identity. Nonsurgical cosmetic procedures, such as neuromodulators, have consequently become a viable treatment option for patients with gender dysphoria because of the ability to yield significant, although temporary, results with minimal associated risks and downtime. OBJECTIVE: To comprehensively review literature pertaining to the aesthetic considerations for use of neuromodulators in transgender and nonbinary individuals. MATERIALS AND METHODS: A literature review of PubMed/MEDLINE for studies was published through January 2024 for nonsurgical facial and body modification using neuromodulators. Searches were conducted with relevant keywords. Peer-reviewed articles and their references published within the past 10 years were given emphasis in the review. RESULTS: Based on the limited publications to date, the authors prepared a comprehensive review on indications for neuromodulator treatment in this population, including brow positioning, lower face contouring, lip eversion, trapezius slimming, and leg contouring. CONCLUSION: Dermatologists play a crucial role in facilitating the achievement of gender affirmation goals.


Assuntos
Estética , Disforia de Gênero , Pessoas Transgênero , Humanos , Pessoas Transgênero/psicologia , Disforia de Gênero/psicologia , Neurotransmissores , Masculino , Feminino , Técnicas Cosméticas , Lábio/cirurgia , Sobrancelhas
5.
Ann Plast Surg ; 93(4): 420-424, 2024 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-39150758

RESUMO

BACKGROUND: Only upper blepharoplasty can cause a change in the eyebrow position, so browpexy can be combined with blepharoplasty in selected patients. There are many brow lifting techniques, both surgical and nonsurgical, and internal browpexy is one of the most widely used surgical brow lifting techniques. The purpose of this study was to evaluate the change in brow position after upper blepharoplasty with or without internal browpexy using preoperative and postoperative photographs. METHODS: Patients who underwent upper blepharoplasty by a single surgeon at Dokuz Eylul University Hospital between 2018 and 2022 were retrospectively evaluated. A total of 48 patients, 30 of whom underwent upper blepharoplasty only and 18 of whom underwent upper blepharoplasty combined with internal browpexy, were examined to present the change in brow position postoperatively. Preoperative and postoperative photographs were analyzed using the ImageJ program and the proportional changes in brow height were shown. RESULTS: The first group, which only underwent upper blepharoplasty only, consisted of 30 patients (62.5%), all female; the second group, which underwent upper blepharoplasty and internal browpexy, consisted of 18 patients (37.5%), all female. The change at the midpupil level was determined as a 6.13% decrease in the first group and a 2.99% increase in the second group; at the brow peak level, this change was a 6.2% decrease in the 1st group and a 4.38% increase in the 2nd group. CONCLUSIONS: In cases of dermatochalasis, blepharoplasty alone can cause a shortening of the distance between the eyebrow and the upper eyelid groove and an unaesthetic appearance. Internal browpexy is an easy-to-apply technique that allows stabilization of the eyebrow after skin excision and a small amount of elevation.


Assuntos
Blefaroplastia , Sobrancelhas , Humanos , Blefaroplastia/métodos , Feminino , Estudos Retrospectivos , Pessoa de Meia-Idade , Ritidoplastia/métodos , Adulto , Masculino , Idoso , Resultado do Tratamento , Estética
6.
Adv Tech Stand Neurosurg ; 52: 159-170, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39017793

RESUMO

INTRODUCTION: Considerable effort has been made to reduce surgical invasiveness, since Axel Perneczky introduced the supraorbital eyebrow approach as a core part of his keyhole concept in neurosurgery. But a limited approach does not facilitate an already serious and demanding task as aneurysm surgery. In this regard, the enhancement of the visual field before, during, and after microsurgical aneurysm occlusion is a safe and effective method to increase the quality of treatment. Indications/Contraindications: Based on the individual anatomical findings, the supraorbital keyhole approach provides access to most aneurysms of the anterior circulation. The approach is not recommended in large complex aneurysms, giant aneurysms, BA aneurysms located beneath the dorsum sellae, as well as cases of severe subarachnoid hemorrhage (SAH) and expected brain edema. COMPLICATIONS: Experience with endoscopic procedures in aneurysm surgery is limited to several clinical retrospective articles, and no major complications in conjunction with the endoscope were observed. Outcome and Prognosis: The supraorbital eyebrow approach has a low rate of complications and provides highly favorable cosmetic results. Endoscopic inspection prior to clipping might reduce overexposure and mobilization of the aneurysm. It was found that the rate of intraoperative rupture was decreased. The endoscopic post-clipping control helped significantly to reduce aneurysm remnants and unattended parent, branch, or perforator occlusion. CONCLUSION: The supraorbital eyebrow approach is a safe, effective and elegant approach in the treatment of most aneurysms of the anterior circulation. The additional enhancement of the visual field provided by the endoscope before, during, and after microsurgical aneurysm clipping might decrease the rate of intraoperative aneurysm ruptures and unexpected findings concerning aneurysm remnant occlusion and compromise of involved parent, branching, and perforating vessels.


Assuntos
Sobrancelhas , Aneurisma Intracraniano , Humanos , Aneurisma Intracraniano/cirurgia , Neuroendoscopia/métodos , Procedimentos Neurocirúrgicos/métodos
8.
Ophthalmic Physiol Opt ; 44(6): 1084-1090, 2024 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-38825806

RESUMO

PURPOSE: Clinicians measure the near point of convergence (NPC) and the amplitude of accommodation (AA) from the spectacle plane, the bridge of the nose or the lateral canthus when assessing visual function. These values are compared to standard clinical criteria to diagnose vergence and accommodation deficits, despite varying reference points. This prospective study explored measuring relative to the spectacle plane and from the lateral canthus for NPC and monocular AA, and the resulting clinical implications of diagnosing visual deficits. METHODS: Participants were seen by a single clinician for an eye examination. NPC was measured from the forehead and the lateral canthus of the right eye. Monocular AA was measured from the brow and the lateral canthus. Differences between measurements were analysed using non-parametric statistical tests including Wilcoxon Signed Rank, as well as linear regression and a linear mixed effects model to adjust for inter-eye correlation and repeated measures. Chi-square tests were used to assess differences in rates of abnormal findings. RESULTS: Data were collected from 70 participants (53% female, median age 13 [11-15] years). On average, measuring NPC from the lateral canthus yielded a value 1.8 cm higher than measuring from the forehead. Measuring AA from the lateral canthus resulted in an average difference of 1.5 cm compared to measuring from the brow. A total of 39% and 76% of subjects failed NPC compared to clinical norms when measured from the forehead or the lateral canthus, respectively, while 7% and 40% failed AA when measured from the brow or the lateral canthus, respectively. CONCLUSION: With the variable anatomy of the eye, it is imperative to account for the measurement point when assessing visual function. Measuring from the lateral canthus greatly increased the failure rates for NPC and AA compared with measuring from the forehead and brow, respectively.


Assuntos
Acomodação Ocular , Convergência Ocular , Humanos , Feminino , Masculino , Adolescente , Criança , Estudos Prospectivos , Acomodação Ocular/fisiologia , Convergência Ocular/fisiologia , Testa , Sobrancelhas
9.
Facial Plast Surg Clin North Am ; 32(3): 383-390, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-38936995

RESUMO

After reading this article, one should better understand the anatomy of the forehead, brow, and eyelid complexes in the male patient. A thorough history and physical examination allows the facial plastic surgeon to properly select male patients in whom blepharoplasty and brow lift may be indicated. Specific surgical approaches to upper and lower blepharoplasty are discussed in detail. Surgical techniques and indications for each approach to brow lift in men, including direct, midforehead, coronal, pretrichial, endoscopic, temporal, and transblepharoplasty are explicitly outlined.


Assuntos
Blefaroplastia , Sobrancelhas , Testa , Ritidoplastia , Humanos , Blefaroplastia/métodos , Masculino , Sobrancelhas/anatomia & histologia , Testa/cirurgia , Testa/anatomia & histologia , Ritidoplastia/métodos , Pálpebras/cirurgia , Pálpebras/anatomia & histologia , Rejuvenescimento
10.
J Cosmet Dermatol ; 23(9): 2895-2904, 2024 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-38943266

RESUMO

OBJECTIVE: To assess the effectiveness and safety of treating erythematotelangiectatic rosacea using fractional radiofrequency (FRF). METHODS: Twenty patients with a confirmed diagnosis of erythema capillaris rosacea were selected, and one side of each patient's face was randomly assigned to receive FRF treatments for three to six times, with an interval of 2 weeks between each treatment. VISIA, dermoscopy, and the Clinician's Erythema Evaluation Scale (CEA) were applied to evaluate the efficacy of the treatment before and after the treatment, to record the VAS scores and adverse reactions, and to conduct a patient satisfaction survey. RESULTS: The characteristic counts and scores of red zone and porphyrin as assessed by VISIA test were significantly decreased, and the difference between the treated side and the pretreatment side was statistically significant (p < 0.05), and the efficacy of the treatment was statistically insignificant compared with the control side, except for the red zone and porphyrin which were statistically significant before and after the treatment (p > 0.05). By CEA score, the difference between the treated side after treatment and the control side was statistically significant (p < 0.05), and the difference between the treated side before and after treatment was statistically significant (p < 0.05); the difference between the control side before and after treatment was not statistically significant (p > 0.05). Dermatoscopic observation showed reduction in pore size, reduction of yellowish-white and black horn plugs within the pores, lightening of the red background and thinning and blurring of the capillary structure on the treated side of the skin compared to the control side, and the skin on the treated side showed the above mentioned changes before and after the treatment as well. The mean pain score of the subjects was obtained by VAS score 3.67 ± 0.90. Adverse effects included mild edema, erythema, and microscopic crusting; no long-term adverse effects were seen in all patients. The efficacy of FRF treatment was evaluated 1 month after the final treatment, and 85% of the subjects rated it as satisfactory, very satisfactory, and very satisfactory. CONCLUSION: FRF for the treatment of erythematous capillary dilatation rosacea is effective, safe, and suitable for clinical promotion.


Assuntos
Satisfação do Paciente , Rosácea , Humanos , Rosácea/terapia , Rosácea/diagnóstico , Rosácea/radioterapia , Feminino , Adulto , Pessoa de Meia-Idade , Resultado do Tratamento , Masculino , Terapia por Radiofrequência/efeitos adversos , Terapia por Radiofrequência/métodos , Dermoscopia , Eritema/etiologia , Eritema/terapia , Telangiectasia/terapia , Telangiectasia/radioterapia , Telangiectasia/diagnóstico por imagem , Adulto Jovem , Índice de Gravidade de Doença , Face , Pele/efeitos da radiação , Pele/patologia , Pele/diagnóstico por imagem , Pele/irrigação sanguínea , Anormalidades Múltiplas , Sobrancelhas/anormalidades , Doença de Darier
11.
J Plast Reconstr Aesthet Surg ; 93: 203-209, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38703712

RESUMO

BACKGROUND: Direct browlift is useful but leaves a scar above the brow. We proposed a dual-plane browlift to avoid facial scarring while effectively resolving brow ptosis in young and young adult patients. METHODS: Seven patients with facial palsy underwent dual-plane browlift between July 2018 and June 2022. The mean postoperative follow-up period was 31.9 months. Skin resection at the hairline was combined with subcutaneous dissection down to the inferior margin of the brow to "lift" the brow. Fascia lata strips were fixed to the dermis just inferior to the eyebrow to "hold" the brow, and the strips were suspended upward through the subperiosteal tunnel and fixed to the periosteum. Brow height was compared before and after the procedure and with the contralateral side. RESULTS: The reported complications included slight hematoma at the recipient site, temporary difficulty in closing the eye, and seroma at the fascia donor site. The paralyzed side showed significant differences between the preoperative period and postoperative months (POM) 3, 6, and 12, but differences were not shown in the intervals between POM 3 and 6, 6 and 12, or 3 and 12. The difference in eyebrow height between the paralyzed and nonparalyzed sides was significant preoperatively but not at POM 3, 6, or 12. All scars matured well, and the fascia silhouette was not visible in the forehead region. CONCLUSIONS: Dual-plane browlift enables rigid suspension using the fascia lata and excises flaccid skin without leaving facial scars, yielding excellent cosmetic quality and stable long-term outcomes.


Assuntos
Blefaroptose , Sobrancelhas , Paralisia Facial , Ritidoplastia , Humanos , Feminino , Paralisia Facial/cirurgia , Masculino , Blefaroptose/cirurgia , Ritidoplastia/métodos , Adulto , Adulto Jovem , Fascia Lata/transplante , Testa/cirurgia , Complicações Pós-Operatórias/etiologia , Complicações Pós-Operatórias/prevenção & controle , Blefaroplastia/métodos
13.
J Drugs Dermatol ; 23(5): 327-331, 2024 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-38709698

RESUMO

Though it is widely acknowledged that cancer treatments cause hair loss on the scalp, there are limited data on how they affect eyebrow and eyelash hairs. Patients with eyebrow and eyelash loss, or madarosis, seek various treatment options ranging from camouflage techniques with makeup, permanent tattoos, and prescription medications. Though not yet studied in patients with cancer-induced madarosis, techniques such as scalp cooling, cryotherapy, and topical vasoconstrictors are promising preventative options. More robust research is needed to improve both the quality and quantity of available treatment and preventative options. There is a clear need for dermatologists to play a role in supportive oncodermatology for patients who experience eyebrow and eyelash loss secondary to chemotherapy, endocrine therapies, and radiation therapy. J Drugs Dermatol. 2024;23(5):327-331. doi:10.36849/JDD.8003.


Assuntos
Alopecia , Sobrancelhas , Pestanas , Humanos , Alopecia/etiologia , Alopecia/terapia , Alopecia/diagnóstico , Neoplasias/terapia , Neoplasias/complicações , Antineoplásicos/efeitos adversos , Antineoplásicos/administração & dosagem , Crioterapia/métodos
15.
World Neurosurg ; 187: e1011-e1016, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38750886

RESUMO

OBJECTIVE: Bipedalism was a significant milestone in the evolutionary development of Homo sapiens sapiens, influencing neocortical evolution and subsequent behavioral changes. Coordinated visual and sensory inputs are crucial for posture, environmental interaction, and surgical planning, with horizontal gaze being a pivotal parameter. This narrative review aims to explore various geometric measures used to assess horizontal gaze in patients, highlighting their applications in surgical planning. METHODS: A literature review was conducted in indexed databases using Mesh terms like "Cervical Vertebrae" and "Visual Fields" along with keywords such as "horizontal gaze" and "sagittal spine parameters." Among 477 initially identified articles, 41 were selected for inclusion after rigorous filtering. RESULTS: The most recognized method for assessing horizontal gaze is the Chin Brow Vertical Angle (CBVA), initially described in patients with ankylosing spondylitis. Clinical photography is employed as a tool for CBVA calculation, while other measures like McGregor slope and Slope of the Line of Sight have been considered as alternatives to CBVA. Each method presents its unique advantages and limitations. CONCLUSIONS: This review highlights the need for further research into horizontal gaze measurement methods. Developing novel approaches to determine horizontal gaze can significantly enhance surgical planning and, consequently, improve patient outcomes. The ongoing exploration of these geometric measures offers promising prospects for advancing the field and optimizing patient care.


Assuntos
Fixação Ocular , Humanos , Fixação Ocular/fisiologia , Campos Visuais/fisiologia , Postura/fisiologia , Sobrancelhas/anatomia & histologia
17.
Neurosurg Focus ; 56(4): E13, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38560941

RESUMO

OBJECTIVE: Eyebrow supraorbital craniotomy is a versatile keyhole technique for treating intracranial pathologies. The eyelid supraorbital approach, an alternative approach to an eyebrow supraorbital craniotomy, has not been widely adopted among most neurosurgeons. The purpose of this systematic review and meta-analysis was to perform a pooled analysis of the complications of eyebrow or eyelid approaches for the treatment of aneurysms, meningiomas, and orbital tumors. METHODS: A systematic review of the literature in the PubMed, Embase, and Cochrane Review databases was conducted for identifying relevant literature using keywords such as "supraorbital," "eyelid," "eyebrow," "tumor," and "aneurysm." Eyebrow supraorbital craniotomies with or without orbitotomies and eyelid supraorbital craniotomies with orbitotomies for the treatment of orbital tumors, intracranial meningiomas, and aneurysms were selected. The primary outcomes were overall complications, cosmetic complications, and residual aneurysms and tumors. Secondary outcomes included five complication domains: orbital, wound-related, scalp or facial, neurological, and other complications. RESULTS: One hundred three articles were included in the synthesis. The pooled numbers of patients in the eyebrow and eyelid groups were 4689 and 358, respectively. No differences were found in overall complications or cosmetic complications between the eyebrow and eyelid groups. The proportion of residuals in the eyelid group (11.21%, effect size [ES] 0.26, 95% CI 0.12-0.41) was significantly higher (p < 0.05) than that in the eyebrow group (6.17%, ES 0.10, 95% CI 0.08-0.13). A subgroup analysis demonstrated significantly higher incidences of orbital, wound-related, and scalp or facial complications in the eyelid group (p < 0.05), but higher other complications in the eyebrow group. Performing an orbitotomy substantially increased the complication risk. CONCLUSIONS: This is the first meta-analysis that quantitatively compared complications of eyebrow versus eyelid approaches to supraorbital craniotomy. This study found similar overall complication rates but higher rates of selected complication domains in the eyelid group. The literature is limited by a high degree of variability in the reported outcomes.


Assuntos
Craniotomia , Sobrancelhas , Pálpebras , Complicações Pós-Operatórias , Humanos , Craniotomia/métodos , Craniotomia/efeitos adversos , Pálpebras/cirurgia , Complicações Pós-Operatórias/etiologia , Complicações Pós-Operatórias/epidemiologia , Resultado do Tratamento , Aneurisma Intracraniano/cirurgia , Meningioma/cirurgia , Órbita/cirurgia
19.
Aesthet Surg J ; 44(8): NP540-NP550, 2024 Jul 15.
Artigo em Inglês | MEDLINE | ID: mdl-38662760

RESUMO

The face plays an important role in human interactions, and the periorbital region is particularly important for recognition and attractiveness. There are several studies on the beauty of the periorbital region with a variety of methodologies, but few articles consider the attractiveness factors derived from evolutionary psychology such as symmetry, dimorphism, age and average, neoteny, and facial expression. The aim of this study was to identify periorbital attractiveness criteria in Caucasian females based on experimental studies and to interpret them in the light of studies on biological attractiveness factors. A review of literature was conducted with PubMed, the Cochrane Library Database, and EMBASE. Studies published after March 20, 2022, were analyzed, and no date limit was applied to reference papers. The search strategy was focused on 3 main concepts: attractiveness AND evaluation AND facial feature of periorbital region. A total of 780 articles were identified with this search strategy; 534 were excluded based on title and abstract and another 110 after full text assessment. Eighteen articles were finally included in the analysis. The main factors identified were an ascending intercanthal axis and eyebrow axis, a regular pretarsal plate and a well-defined upper lid crease, no scleral show, and an open eye fissure exposing the upper half of the iris. In our review we were able to identify objective anthropometric characteristics linked to biological attractiveness criteria that may be helpful in preoperative planning and assessment of the periorbital region of patients.


Assuntos
Beleza , Estética , População Branca , Humanos , Feminino , Face/anatomia & histologia , Sobrancelhas/anatomia & histologia
20.
J Eur Acad Dermatol Venereol ; 38(9): 1818-1827, 2024 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-38595321

RESUMO

BACKGROUND: Data on dermatological manifestations of Costello syndrome (CS) remain heterogeneous and lack in validated description. OBJECTIVES: To describe the dermatological manifestations of CS; compare them with the literature findings; assess those discriminating CS from other RASopathies, including cardiofaciocutaneous syndrome (CFCS) and the main types of Noonan syndrome (NS); and test for dermatological phenotype-genotype correlations. METHODS: We performed a 10-year, large, prospective, multicentric, collaborative dermatological and genetic study. RESULTS: Thirty-one patients were enrolled. Hair abnormalities were ubiquitous, including wavy or curly hair and excessive eyebrows, respectively in 68% and 56%. Acral excessive skin (AES), papillomas and keratotic papules (PKP), acanthosis nigricans (AN), palmoplantar hyperkeratosis (PPHK) and 'cobblestone' papillomatous papules of the upper lip (CPPUL), were noted respectively in 84%, 61%, 65%, 55% and 32%. Excessive eyebrows, PKP, AN, CCPUL and AES best differentiated CS from CFCS and NS. Multiple melanocytic naevi (>50) may constitute a new marker of attenuated CS associated with intragenic duplication in HRAS. Oral acitretin may be highly beneficial for therapeutic management of PPHK. No significant dermatological phenotype-genotype correlation was determined between patients with and without HRAS c.34G>A (p.G12S). CONCLUSIONS AND RELEVANCE: This validated phenotypic characterization of a large number of patients with CS will allow future researchers to make a positive diagnosis, and to differentiate CS from CFCS and NS.


Assuntos
Síndrome de Costello , Proteínas Proto-Oncogênicas p21(ras) , Humanos , Síndrome de Costello/genética , Síndrome de Costello/complicações , Estudos Prospectivos , Feminino , Masculino , Criança , Proteínas Proto-Oncogênicas p21(ras)/genética , Adolescente , Pré-Escolar , Adulto , Adulto Jovem , Displasia Ectodérmica/genética , Síndrome de Noonan/genética , Síndrome de Noonan/complicações , Acantose Nigricans/genética , Diagnóstico Diferencial , Ceratodermia Palmar e Plantar/genética , Cardiopatias Congênitas/genética , Cardiopatias Congênitas/complicações , Fenótipo , Papiloma/genética , Papiloma/patologia , Acitretina/uso terapêutico , Sobrancelhas/anormalidades , Sobrancelhas/patologia , Insuficiência de Crescimento/genética , Insuficiência de Crescimento/etiologia , Lactente , Ceratolíticos/uso terapêutico , Fácies
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