Figure - available via license: Creative Commons Attribution 2.0 Generic
Content may be subject to copyright.
Source publication
Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous disease resulting in a wide array of clinical manifestations, primarily affecting the skin and central nervous system. Mucocutaneous features play a very important role in the recognition of this syndrome.
To review the prevalence and patterns of cutaneous manifestations in tu...
Similar publications
Tuberous sclerosis complex (TSC) is an autosomal dominant syndrome due to a mutation in the TSC2 or TSC1 gene. The disease is known to have variable expressivity involving the neurological, cardiovascular, renal, pulmonary, and integumentary systems (Kennedy et al., 2017). We present a case report, and associated literature review, of a toddler wit...
Citations
... Incidence of angiofibromas was noted to be high in various studies, ranging from 88% to 100%. 6,12,13,14 Incidence of Shagreen patch was almost similar to the incidence in other Indian studies (65%, 66.7% and 77.7%). 6,12,14,15 Lower incidences of hypopigmented macules recorded as 55.5% and 65% were noted in other studies. ...
... 6,12,13,14 Incidence of Shagreen patch was almost similar to the incidence in other Indian studies (65%, 66.7% and 77.7%). 6,12,14,15 Lower incidences of hypopigmented macules recorded as 55.5% and 65% were noted in other studies. 14 In a study, CALMs were occasional cutaneous findings seen in 28.3% cases. ...
p class="abstract"> Background: Genetic diseases causing abnormalities in structure and / or function of skin are termed as genodermatoses. As there is paucity of epidemiological data of genodermatoses from our country, this study was conducted to determine the latest clinical and epidemiological trends of pediatric genodermatoses.
Methods: A hospital-based observational study consisting of 35 clinically diagnosed pediatric genodermatoses cases, who reported to the Dermatology OPD, Dr. D.Y. Patil Medical College, Pune, was conducted for a period of two years. Socio-demographic and clinical information was collected and clinical examination was performed on all patients to record any cutaneous / extra-cutaneous abnormality. The participants were then subjected to necessary investigations to elucidate the additional disease components. The data was evaluated using appropriate statistical methods.
Results: Out of 4032 pediatric patients , 35 were found to have genodermatoses. Majority (57.14%) cases belonged to the first decade of life. There was no sexual predilection (male:female - 0.94:1). The commonest genodermatoses detected were neurofibromatosis and tuberous sclerosis (17.14% each). Most common mode of inheritance seen was autosomal dominant (57.14%). Family history and consanguinity were recorded in 45.71% and 22.86% cases respectively. Café-au-lait macules seen in 22.86% cases and ocular anomalies recorded in 34.38% cases were the commonest cutaneous and extracutaneous manifestations, respectively.
Conclusions: Genodermatoses are rare skin disorders with systemic involvement at times, resulting in poorer prognosis. This necessitates more focus on this speciality.</p
... 33,34 En términos histológicos, se distinguen por proliferación irregular de tejido fibroso y de vasos sanguíneos. 22 La existencia de angiofibromas reportada es de 88 a 100%, 20,22,23,25,35 este estudio reportó 81.8%, con predominio bilateral. En distintos estudios se demuestra que 80% se localiza en la región centrofacial (nariz y mejillas), 20,23 ligeramente mayor a la frecuencia hallada en este estudio (72.7%). ...
... 24 Los hallazgos de este estudio se compararon con los de siete estudios observacionales internacionales, uno en España, tres en India, uno en Estados Unidos, uno en Japón y el último en Irán. 25,35,40,43,[44][45][46] Todos estos estudios revelaron que las manifestaciones dermatológicas fueron las más comunes. Sin embargo, Fernández-Guarino y colaboradores, Ghosh y su grupo y Rama Rao y colaboradores reportaron que los angiofibromas fueron la lesión más frecuente, mientras que todos los demás estudios compartieron nuestros hallazgos. ...
... Sin embargo, Fernández-Guarino y colaboradores, Ghosh y su grupo y Rama Rao y colaboradores reportaron que los angiofibromas fueron la lesión más frecuente, mientras que todos los demás estudios compartieron nuestros hallazgos. 35,43,46 Con excepción de los estudios de Tonekaboni y colaboradores 45 y de Wataya-Kaneda y su grupo, 25 la lesión dermatológica menos frecuente en los estudios internacionales fueron los fibromas ungueales (10-34%), al igual que nuestras observaciones (Cuadro 3). ...
ANTECEDENTES: La esclerosis tuberosa es una enfermedad poco común cuyas principales manifestaciones son dermatológicas y neurológicas. En nuestra región, no existen estudios descriptivos de esclerosis tuberosa en un centro de referencia dermatológico que se comparen con lo reportado internacionalmente.
OBJETIVO: Determinar las características clínicas y epidemiológicas en pacientes
con diagnóstico de esclerosis tuberosa y comparar nuestros hallazgos con los de la
bibliografía mundial.
MATERIAL Y MÉTODO: Estudio retrospectivo, descriptivo y observacional de los pacientes que cumplieran criterios diagnósticos de esclerosis tuberosa, que acudieron a la consulta de Dermatología del Hospital Universitario Dr. José Eleuterio González entre
abril de 2012 y noviembre de 2017. Se recabaron las características epidemiológicas,
motivo de consulta, tipo de lesión, topografía y comorbilidades.
RESULTADOS: Se identificaron 11 pacientes. La lesiones dermatológicas fueron en la
mayoría de los casos la primera manifestación clínica. Las máculas hipomelanóticas
aparecieron en el 100% de los casos; la presentación más frecuente fue en forma de
hoja de fresno (63.6%). La lesiones cutáneas menos comunes fueron los fibromas
ungueales (18.2%). Las crisis convulsivas se refirieron en 36.4% y fue la primera
manifestación neurológica.
CONCLUSIONES: Las máculas hipomelanóticas, por su alta prevalencia, tienen valor
diagnóstico importante; sin embargo, no son específicas. Estas lesiones, junto con los
angiofibromas, fueron los hallazgos más comunes. Los hallazgos de nuestro estudio
son concordantes con los reportados en la bibliografía internacional.
PALABRAS CLAVE: Esclerosis tuberosa; angiofibroma; hamartoma.
... Tuberous sclerosis complex (TSC) is predominantly a neuro-cutaneous disease characterized by hamartoma formation in multiple organs resulting from defective cellular proliferation and differentiation. [1][2][3] It presents with varied cutaneous and systemic features. Cutaneous manifestations include hypomelanotic macules, facial angiofibromas, forehead plaques, shagreen patches, periungual and gingival fibromas, [2] café-au-lait macules, and skin tags. ...
... Hypopigmented macules were the most common cutaneous manifestation in our study noted in 95% of the patients. Similarly high incidence of 80%-92.6% was observed in two other Indian studies [1,18] and a Japanese study, [19] whereas lower incidences of 55.5% and 65% were noted in other studies both in India and abroad. [2,20] Facial angiofibromas on centrofacial area are seen in 80% of patients. ...
... [21] The incidence of angiofibromas was noted to be high in various studies, ranging from 88% to 100%. [1,[18][19][20] We observed angiofibromas in 90% of patients. ...
Tuberous sclerosis complex (TSC) is a neuro-cutaneous disease characterized by hamartoma formation in various organs particularly the skin, brain, eye, kidney, heart and lungs. Patients usually have multisystem involvement and thus present to different medical specialties with varied complaints while the true nature of the disease and the hidden manifestations may remain unattended. A im: To assess the frequency and characteristics of various cutaneous and systemic manifestations in TSC and the total impact on different system in a cohort of pediatric patients.
The study included 20 patients fulfilling the diagnostic criteria for TSC from dermatology, pediatrics, and neurology department. Detailed history, examination, and investigations such as chest X-ray, electrocardiography (ECG), ultrasonography (USG) abdomen, echocardiography, fundoscopy, computed tomography (CT) scan of brain and abdomen were done.
Dermatological manifestations included ash leaf macules, angiofibromas, shagreen patch, and fibrous plaque. Systemic findings observed were subependymal calcified nodules, subependymal giant cell astrocytoma, cortical tubers, renal cysts, angiomyolipomas, lung cyst, retinal hamartomas, mental deficits and epilepsy.
Wechsler's Intelligence Scale for Children would have been more appropriate for assessing the intelligence. Dental check-up was not done in our group of patients.
Our study highlights the wide variety of cutaneous and systemic manifestations of TSC. The study emphasizes the need for comprehensive multidisciplinary treatment and periodic follow-up which are necessary for appropriate management of this multisystem disorder. Counseling regarding education and rehabilitation of the patients and genetic counseling of parents are important.
... 7 8 Although fibromas are common on extremities, face or forehead, scalp fibromas (figure 2) in association with TSC are rarely described. [7][8][9] They are composed of fibrocollagenous tissues with a few dilated vessels. Other uncommon locations of fibromas are gums, mucosa, lips and base of tongue. ...
We report a case of a 23-year-old woman with a history
of generalised tonic–clonic seizures, reddish brown
maculopapular swelling over the face and an enlarging
swelling over the scalp. Physical examinations revealed
angiofibroma of the face and other typical cutaneous
lesions of tuberous sclerosis, for example, shagreen
patch and periungual fibroma. Scalp swelling was
labelled as fibroma by dermatologists, which was further
supported by the histopathological findings. Fibroma of
the face is one of the commonest lesions, however,
fibroma of the scalp is a rarely described entity.
... 7 8 Although fibromas are common on extremities, face or forehead, scalp fibromas (figure 2) in association with TSC are rarely described. [7][8][9] They are composed of fibrocollagenous tissues with a few dilated vessels. Other uncommon locations of fibromas are gums, mucosa, lips and base of tongue. ...
We report a case of a 23-year-old woman with a history of generalised tonic-clonic seizures, reddish brown maculopapular swelling over the face and an enlarging swelling over the scalp. Physical examinations revealed angiofibroma of the face and other typical cutaneous lesions of tuberous sclerosis, for example, shagreen patch and periungual fibroma. Scalp swelling was labelled as fibroma by dermatologists, which was further supported by the histopathological findings. Fibroma of the face is one of the commonest lesions, however, fibroma of the scalp is a rarely described entity.
... Adenoma sebaceum is an archaic misnomer for angiofibromas on the face without any relationship to sebaceous glands. Adenoma sebaceum is part of the classical triad of tuberous sclerosis (adenoma sebaceum, mental retardation and epilepsy), which is an autosomal dominant neurocutaneous disease resulting from the mutation of TSC-1 or TSC-2 [28-30]. The lesions start to occur in childhood (5-10 years of age) and appear as multiple wart-like, waxy lumps consisting of angiomatous and fibrous tissue (Fig. 3). ...
Skin diseases on the nose are seen in a variety of medical disciplines. Dermatologists, otorhinolaryngologists, general practitioners and general plastic and dermatologic surgeons are regularly consulted regarding cutaneous lesions on the nose. This article is the second part of a review series dealing with cutaneous lesions on the head and face, which are frequently seen in daily practice by a dermatologic surgeon. In this review, we focus on those skin diseases on the nose where surgery or laser therapy is considered a possible treatment option or that can be surgically evaluated.
Tuberous sclerosis complex (TSC) is a disease of varying presentations characterised by the presence of multiple hamartomas in various organ systems in the body. This is an Autosomal dominant disease with damages in two suppressor genes namely TSC1 and TSC2 located on chromosome 9 (9q34-hamartin) and chromosome 16 (16p13.3-tuberin). It is a lifelong disease with neurological manifestations, for example, epilepsy, mental retardation and autism and
major dermatological features like facial fibromas (adenoma sebaceum), periungual fibromas, shagreen patches and hypopigmented macules. Some conditions, for example, autosomal dominant polycystic kidney disease can co-exist with TSC as a result of concurrent deletion of both polycystic kidney disease 1 and TSC2 genes present on chromosome 16p13.3. We present a cluster of three families with TSC having varied presentations.
Tuberous sclerosis complex (TSC) is a syndrome that is not uncommon affecting many organs of the body. Dental manifastations are fibrous growth, enamel pits, enamel hypoplasia. Long term partial edentulous condition of such TSC patient resulted in tooth positional changes altering the occlusal curve and the esthetics. Broadrick occlusal plane analyzer was used to coorect the deranged occlusal plane and to improve the esthetics and functional occlusion.
