scholarly journals Case report on tuberous sclerosis

2021 ◽  
Vol 97 (2) ◽  
pp. 56-60
Author(s):  
Nadezhda V. Krasnova ◽  
Geliya G. Gimalieva ◽  
Larisa G. Sinitsyna

Patient M., 23 years old, consulted a dermatologist with complaints of rashes on the face, which had bothered since childhood. On objective examination, skin lesions were widespread. A visual examination revealed spots of hypopigmentation, angiofibromas of the face, shagreen fate of the skin, periungual fibromas. She was diagnosed with tuberous sclerosis. Further examination revealed a neoplasm in the brain and right kidney, damage to the lungs, tubular bones, lymphadenopathy. The patient continues to be monitored by a neurologist and therapist. Based on the results of CT scan of the chest organs, an oncologist's consultation was scheduled to conduct an oncology search. Thus, with skin manifestations characteristic of this disease, it is necessary to conduct a comprehensive examination to identify concomitant pathology and early diagnosis of complications.

Author(s):  
Zeebaish S. ◽  
Hemalatha P. ◽  
Anusha Y. ◽  
Surendra Reddy N. ◽  
Durga Prasad T. S.

Tuberous sclerosis is a genetic multisystem disorder characterized by widespread hamartomas in several organs, including the brain, heart, skin, eyes, kidney, lung and liver.  The affected genes are TSC1 and TSC2, encoding hamartin and tuberin respectively.  Most features of tuberous sclerosis become evident only in childhood, limiting their usefulness for early diagnosis. We report a case of 3months old female child with seizures and hypo-pigmented skin lesions. The case is rare as it is documented in a family affected continuously in three generations involving four members.


2021 ◽  
Vol 33 (1) ◽  
pp. 99-103
Author(s):  
Nawsabah Noor ◽  
Iffat Ara Jurfa ◽  
Halima Khatun ◽  
Homayra Tahseen ◽  
Quazi Tarikul Islam

Tuberous sclerosis complex is an unusual neurocutaneous syndrome with autosomal-dominant inheritance. It is characterized by the development of benign tumors involving the brain, skin, retina, heart, kidneys, lungs, and liver. The classic triad of clinical features comprises learning disability, epilepsy and skin lesions but there is marked heterogeneity in clinical features. Here, we present a case report of a 17-old-year male with characteristic clinical and radiological features of tuberous sclerosis complex. Bangladesh J Medicine July 2022; 33(1) : 99-103


1984 ◽  
Vol 8 (5) ◽  
pp. 279-283
Author(s):  
Tatsuo Takao ◽  
Takehiko Okuno ◽  
Masatoshi Ito ◽  
Shozo Nakano ◽  
Haruo Hattori ◽  
...  

2021 ◽  
Author(s):  
Rawan AlAgha ◽  
Wee Lee Chan ◽  
Thong Edwin Wei Sheng ◽  
Joanne Lee ◽  
Jen Wei Ying ◽  
...  

Abstract Fusariosis is increasingly seen among immunocompromised host. The organism is known for its virulence and spectrum of infections. Presenting here a case of relapse acute myeloblastic leukemia on chemotherapy with acute onset of red painful eye followed by widespread painful skin lesions. Microbiological and radiological investigations diagnosed her with disseminated fusariosis. Treatment was challenging in view its inherent resistance to multiple anti-fungal agents and the need for early aggressive source control. The case report reflects the importance of early diagnosis and combination chemotherapy to salvage the patient from high mortality.


Author(s):  
David Breuskin ◽  
Ralf Ketter ◽  
Joachim Oertel

Abstract Background Although intracranial traumas by penetrating foreign objects are not absolute rarities, the nature of trauma, the kind of object, and its trajectory make them a one of a kind case every time they occur. Whereas high-velocity traumas mostly result in fatalities, it is the low-velocity traumas that demand an individualized surgical strategy. Methods We present a case report of a 33-year-old patient who was admitted to our department with a self-inflicted transorbital pen injury to the brain. The authors recall the incident and the technique of the pen removal. Results Large surgical exposure of the pen trajectory was considered too traumatic. Therefore, we opted to remove the pen and have an immediate postoperative computed tomography (CT) scan. Due to its fragility, the pen case could only be removed with a screwdriver, inserted into the case. Post-op CT scan showed a small bleeding in the right peduncular region, which was treated conservatively. The patient was transferred back to intensive care unit and woken up the next day. She lost visual function on her right eye, but suffered from no further neurologic deficit. Conclusion Surgical management of removal of intracranial foreign bodies is no routine procedure. Although some would favor a large surgical exposure, we could not think of an approach to do so without maximum surgical efforts. We opted for a minimal surgical procedure with immediate CT scan and achieved an optimal result. We find this case to be worth considering when deciding on a strategy in the future.


Author(s):  
Tanjala T. Gipson ◽  
Andrea Poretti ◽  
Rebecca McClellan ◽  
Michael V. Johnston

Tuberous sclerosis complex (TSC) is a disease, commonly classified as a neurocutaneous disorder, which may result in benign tumors throughout the brain and body, skin lesions, epilepsy, and cognitive/behavioral difficulties. Scientific discovery in TSC has resulted in the availability of treatments designed to target the neurobiological core of TSC in children. However, research is needed to determine if these treatments are effective for multiple aspects of the TSC phenotype in children. Current pediatric research studies have focused on the effects of early treatment of epilepsy as well as identification of potential biomarkers. This chapter reviews the aspects of TSC unique to pediatric patients, the status of current research, and future directions.


2021 ◽  
Vol 69 (1) ◽  
Author(s):  
Barakat Adeola Animasahun ◽  
Faith O. Lawani ◽  
Moriam Omolola Lamina

Abstract Background Erythema marginatum is an uncommon presentation in children with acute rheumatic fever and it is one of the major criteria needed to make a diagnosis. It is seen in less than 10% of cases. It is also reported to be difficult to detect in black-skinned children. This is the first and only patient to present with the above since the inception of the unit about 14 years ago and also the first to be reported in Nigeria as far as the authors are aware, after a careful literature search; hence, we report this case based on the rarity of this symptom of acute rheumatic fever. Case presentation This is a case report of O.E, a 12-year-old Nigerian girl who presented with features of acute rheumatic fever, and these features included the rare manifestation of erythema marginatum. She presented with generalized skin eruptions on the trunk and extremities, sparing the face, migratory polyarthritis, features of congestive heart failure and high grade continuous fever. The skin lesions consisted of papules, patches, plaques and polycycles with a reticular pattern having serpiginous and raised borders. Diagnostic investigations revealed elevated erythrocyte sedimentation rate of 83mm/h, anti-streptolysin O titer of 2020IU/L and echocardiography which showed thickened mitral valves with grade II mitral regurgitation and a mild pulmonary artery hypertension. The patient was treated with anti-inflammatory and anti-failure drugs and commenced secondary prophylaxis with benzathine penicillin. Skin eruptions resolved within 3 weeks of management and are currently on follow up. Conclusions We present the above to increase awareness on the possibility of acute rheumatic fever presenting with erythema marginatum in our region, to encourage early diagnosis of acute rheumatic fever to reduce morbidity and mortality from its sequel, rheumatic heart disease.


2021 ◽  
Vol 6 (1) ◽  
pp. 01-05
Author(s):  
Daniel Jiménez Zaragoza ◽  
Jorge Paredes Vieyra ◽  
Francisco Javier Jiménez Enríquez

Aim: To report an uncommon case of an extraoral sinus tract of the facial region caused by a tooth with an acute apical abscess in the mandible. Case report: Established on oral examination and radiographic examination, an Acute Apical Abscess (cellulitis/phlegmon) of tooth 47 was diagnosed, which had resulted in a cutaneous sinus tract. The continuous purulent discharge of the sinus tract in the facial right region ceased after drainage and extraction of tooth 47. Conclusion: It is challenging to diagnose and identify a cutaneous draining sinus tract of dental origin. Thus, treatment of skin lesions of the face (impetigo), and neck odontogenic infections should always be considered. Clinical and radiographic dental examinations can identify the tooth involved.


2005 ◽  
Vol 63 (3b) ◽  
pp. 862-863 ◽  
Author(s):  
Rodrigo Mendonça ◽  
Telmo T.F. Lima ◽  
Leandro I. Dini ◽  
Cláudio L.L. Krebs

We present a case of a severe head injuried 23 year-old male patient. The initial CT scan disclosed bilateral epidural hematoma, isodense with the brain, thus being a pitfall in diagnosis. Brief case report, image and literature rewiew are presented.


2015 ◽  
Vol 5 (1) ◽  
Author(s):  
Mohammad Abbaszadeh Hasiri ◽  
Efat Baghaei Moghaddam

Juvenile sterile granulomatous dermatitis is an uncommon granulomatous and pustular disorder of the face, pinnae, and submandibular lymph nodes of puppies. A 10-week-old male Pekingese and a 8-week-old female German shepherd presented with submandibular lymphadenomegaly, skin lesions on muzzle and periocular area (Papules, crusts and pustules). The case did not respond to antibiotic therapy. Results of a hemogram, biochemical panel, and urinalysis were normal. Due to skin scraping, cytology examination (impression smear), fungal and bacterial culture and response to therapy puppy strangle (juvenile cellulitis) was diagnosed. The puppies made a full recovery on glucocorticoid therapy. The present case report describes the first report of juvenile sterile granulomatous dermatitis in Iran.


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