scholarly journals Congenital Primary Pachydermoperiostosis and Striate Palmoplantar Keratoderma - a Case Report

2014 ◽  
Vol 6 (2) ◽  
pp. 81-92
Author(s):  
Slobodan Stojanović ◽  
Nada Vučković ◽  
Marina Jovanović ◽  
Kosta Petrović
Keyword(s):  
Case Report ◽  
Clinical Features ◽  
Bronchial Carcinoma ◽  
Tarsal Tunnel ◽  
Hypertrophic Osteoarthropathy ◽  
Palmoplantar Keratoderma ◽  
First Case ◽  
Rare Congenital Disorder ◽  
The Face ◽  
Hands And Feet

Abstract The authors present a rare case of congenital pachydermoperiostosis associated with striate palmoplantar keratoderma in a 55-year-old female. Pachydermoperiostosis (PDP) is a heterogeneous syndrome characterized by hypertrophic changes involving predominantly the skin and bones of the extremities: pachydermia, clubbing of the fingers and toes, and hypertrophic osteoarthropathy. Primary pachydermoperiostosis (Touraine-Solente-Gole syndrome) (PPDP) or primary hypertrophic osteoarthropathy (PHO) is a rare congenital disorder and is one of two types of hypertrophic osteoarthropathy. In addition to the three main criteria, which are confirmed clinically, histologically, and by X-ray, there may be other additional clinical features. Hyperhidrosis of the hands and feet may be troublesome. The skin of the face, forehead and scalp becomes grossly thickened and thrown into folds. The folding of the scalp produces a form of cutis verticis gyrata. Additional clinical features include hypohidrosis, seborrhea, sebaceous gland hyperplasia and folliculitis, carpal and tarsal tunnel syndrome, chronic leg ulcers and calcification in the Achilles tendon. Our patient presented with most of these additional clinical features, such as acro-osteolysis of the fingers and toes, which generally occurs occasionally. In regard to palmoplantar keratoderma, we have not found reports of its association with PPDP in the available literature. Unlike PPDP, secondary pachydermoperiostosis (secondary hypertrophic osteoarthropathy -SHO) occurs in association with severe pulmonary disease such as bronchiectasis, abscess, bronchial carcinoma, pleural mesothelioma, or thymic, esophageal or stomach cancer, which were all excluded in our patient. In conclusion, this paper presents a congenital form of pachydermoperiostosis in a female also suffering from striate keratoderma. According to the available literature, this is the first case report of comorbidity between these two dermatoses.

scholarly journals Contact blepharoconjunctivitis due to black henna — A case report

2012 ◽  
Vol 25 (2) ◽  
Author(s):  
Alicja Pas-Wyroślak ◽  
Marta Wiszniewska ◽  
Beata Kręcisz ◽  
Dominika Świerczyńska-Machura ◽  
Cezary Pałczyński ◽  
...  
Keyword(s):  
Case Report ◽  
Physical Examination ◽  
Patch Test ◽  
Dermatophagoides Pteronyssinus ◽  
Tear Fluid ◽  
Allergy Clinic ◽  
Dermatophagoides Farinae ◽  
First Case ◽  
The Face ◽  
Skin Prick Tests

AbstractPara-phenylenediamine (PPD) can induce immediate or — more often — delayed hypersensitivity. We report the case of 48-year old female admitted to the out-patient allergy clinic a day after her visit in a beauty parlour, where she had her eyelashes and eyebrows dyed with henna. Physical examination revealed prominent edema of the upper part of the face including forehead, cheeks and eyes causing severe narrowing of the palpebral chink. Skin prick tests (SPT) with common allergens were positive for Dermatophagoides pteronyssinus, Dermatophagoides farinae and moulds, while the SPT with PPD was negative. Patch test to PPD was positive. Further investigations revealed eosinophilia in the tear fluid. To our knowledge, this is the first case of PPD-induced contact blepharoconjunctivitis (CB) with concomitant increased eosinophilia in the tear fluid.

Deep Temporal Nerve Transfer for Facial Reanimation: Anatomic Dissections and Surgical Case Report

2017 ◽  
Vol 15 (1) ◽  
pp. 81-88
Author(s):  
Mark A Mahan ◽  
Walavan Sivakumar ◽  
David Weingarten ◽  
Justin M Brown
Keyword(s):  
Case Report ◽  
Facial Nerve ◽  
Nerve Transfer ◽  
Lateral Approach ◽  
Multiple Sources ◽  
Facial Muscles ◽  
First Case ◽  
The Face ◽  
Facial Reanimation ◽  
History Of

Abstract BACKGROUND Facial nerve palsy is a disabling condition that may arise from a variety of injuries or insults and may occur at any point along the nerve or its intracerebral origin. OBJECTIVE To examine the use of the deep temporal branches of the motor division of the trigeminal nerve for neural reconstruction of the temporal branches of the facial nerve for restoration of active blink and periorbital facial expression. METHODS Formalin-fixed human cadaver hemifaces were dissected to identify landmarks for the deep temporal branches and the tension-free coaptation lengths. This technique was then utilized in 1 patient with a history of facial palsy due to a brainstem cavernoma. RESULTS Sixteen hemifaces were dissected. The middle deep temporal nerve could be consistently identified on the deep side of the temporalis, within 9 to 12 mm posterior to the jugal point of the zygoma. From a lateral approach through the temporalis, the middle deep temporal nerve could be directly coapted to facial temporal branches in all specimens. Our patient has recovered active and independent upper facial muscle contraction, providing the first case report of a distinct distal nerve transfer for upper facial function. CONCLUSION The middle deep temporal branches can be readily identified and utilized for facial reanimation. This technique provided a successful reanimation of upper facial muscles with independent activation. Utilizing multiple sources for neurotization of the facial muscles, different potions of the face can be selectively reanimated to reduce the risk of synkinesis and improved control.

scholarly journals Cutaneous manifestations in a patient with temporarily associated pediatric multisystemic inflammatory syndrome with COVID-19: case report

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Alessandra Oliveira ◽  
Kamilla Pádua ◽  
Maria Carolina Alves ◽  
Glaucia Silva ◽  
Fernando Paula ◽  
...  
Keyword(s):  
Case Report ◽  
Reference Value ◽  
Maculopapular Rash ◽  
Cutaneous Manifestations ◽  
The Face ◽  
Hands And Feet ◽  
Inflammatory Syndrome ◽  
Positive Results ◽  
Infectious Condition

OBJECTIVES: To describe the cutaneous manifestations presented by a patient with pediatric multisystemic inflammatory syndrome (MIS-C) temporarily associated with SARS-CoV-2. METHODS: Female patient, 10 years old, presenting arthralgia in the wrists and ankles, edema in hands and feet, persistent fever, appearance of diffuse, and itchy maculopapular rash associated with odynophagia and productive cough. Evolution of the rash to violaceous lesions on the face, trunk and limbs (upper and lower), in addition to the appearance of vesicles on the face, within 48 hours. CBC suggestive of an infectious condition, with CRP 307mg/L (insert reference value) and ESR 61mm. RT-PCR for SARS-CoV-2 positive. RESULTS: Diagnosis of pediatric multisystemic inflammatory syndrome temporarily associated with SARS-CoV2. Transferred to ICU for monitoring and intravenous human immunoglobulin initiated. Good evolution, with the disappearance of injuries and discharge with outpatient follow-up. CONCLUSION: MIS-C has several dermatological manifestations and pediatricians must be attentive to the diagnosis, not limited to a specific presentation. In this case report, the importance of referral to tertiary referral centers for better case management and timely recognition of the syndrome in these patients is emphasized.

scholarly journals A rare case of symphalangism of bilateral interphalangial joint of thumbs: a case report

2020 ◽  
Vol 7 (4) ◽  
pp. 1307
Author(s):  
Anil Kumar
Keyword(s):  
Case Report ◽  
Functional Impairment ◽  
Rare Case ◽  
Surgical Intervention ◽  
Rare Condition ◽  
Congenital Disorder ◽  
Rare Congenital Disorder ◽  
Hands And Feet

Symphalangism is rare congenital disorder characterised by ankylosis of interphalangeal joints of hands and feet. The fusion can involve the proximal or the distal joints; however, involvement of the proximal interphalangeal joints is more common. There may other associated skeletol and non-skeletol abnormalities. Here the author reports a 14 year old girl with symphalangism involving the interphalangeal joints of the thumbs of bilateral hand. She did not have any functional impairment and hence no medical or surgical intervention was performed. As involvement of thumbs is very rare condition, author would like to report it. 

Feet Deformity and Gait Disturbance in a Patient with Pachydermoperiostosis (PDP). Case Study

2019 ◽  
Vol 21 (2) ◽  
pp. 119-128
Author(s):  
Marek Aleksander Synder ◽  
Praveen Malik ◽  
Marek Synder ◽  
Żaneta Andrychowicz ◽  
Munaf A. Hatim Altimimi ◽  
...  
Keyword(s):  
Case Report ◽  
Surgical Treatment ◽  
Surgical Management ◽  
Rare Condition ◽  
Gait Disturbance ◽  
Hypertrophic Osteoarthropathy ◽  
The Face ◽  
Radiological Changes ◽  
Primary Form

Pachydermoperiostosis is a rare condition representing a primary form of hypertrophic osteoarthropathy. It presents in different stages. Patients often overlook early symptoms, because they are benign. The most common manifestations are clubbing of the fingers and toes, skin thickening with characteristic folds on the face and head and widening of joints accompanied by radiological changes. Surgical treatment is not often needed, and, consequently, there are no strict guidelines on surgical management, which is mainly based on case report ana­lysis. This paper presents a case of surgical management of pachydermoperiostosis.

scholarly journals Cytogenetic and genomic analysis of a patient with turner syndrome and t(2;12): a case report

2020 ◽  
Vol 13 (1) ◽  
Author(s):  
Paola E. Leone ◽  
Verónica Yumiceba ◽  
Ariana Jijón-Vergara ◽  
Andy Pérez-Villa ◽  
Isaac Armendáriz-Castillo ◽  
...  
Keyword(s):  
Case Report ◽  
Turner Syndrome ◽  
Clinical Features ◽  
X Chromosome ◽  
Genetic Disorder ◽  
Genomic Analysis ◽  
Common Finding ◽  
Mild Intellectual Disability ◽  
First Case ◽  
Conventional Cytogenetics

Abstract Background Turner syndrome is a genetic disorder that affects women. It is caused by an absent or incomplete X chromosome, which can be presented in mosaicism or not. There are 12 cases of Turner syndrome patients who present structural alterations in autosomal chromosomes. Case presentation The present case report describes a patient with a reciprocal, maternally inherited translocation between chromosomes 2 and 12 with a mosaicism of X monosomy 45,X,t(2;12)(p13;q24)[95]/46,XX,t(2;12)(p13;q24)[5]. Through genetic mapping arrays, altered genes in the patient were determined within the 23 chromosome pairs. These genes were associated with the patient’s clinical features using a bioinformatics tool. Conclusion To our knowledge, this is the first case in which a translocation (2;12) is reported in a patient with Turner syndrome and confirmed by conventional cytogenetics, FISH and molecular genetics. Clinical features of our patient are closely related with the loss of one X chromosome, however mild intellectual disability can be likely explained by autosomal genes. The presence of familial translocations was a common finding, thus emphasizing the need for familiar testing for further genetic counselling.

scholarly journals Palmoplantar Keratoderma with Periodontitis

2017 ◽  
Vol 8 (2) ◽  
pp. 89-92
Author(s):  
Ashok Bhansali ◽  
Setu Mathur ◽  
Gunjan Bhansali ◽  
Anuroopa Kishan
Keyword(s):  
Case Report ◽  
Clinical Features ◽  
Clinical Presentation ◽  
Heterogeneous Group ◽  
Palmoplantar Keratoderma ◽  
Heterogeneous Groups ◽  
The Future ◽  
Keratinization Disorders ◽  
Mode Of Inheritance

ABSTRACT Palmoplantar keratodermas (PPKs) comprise a heterogeneous group of keratinization disorders with hyperkeratotic thickening of palms and soles. The PPKs are distinguished by their mode of inheritance and by the presence of certain associated clinical features. Periodontitis was reported in association with more than one syndrome characterized by PPK. Knowledge about heterogeneous groups of acquired or hereditary PPK is important, leading to an appropriate diagnosis and corrective therapies in the future. This case report aims at critically reviewing the literature concerned with PPK and its clinical presentation, in addition to other syndromes manifested along with periodontitis. How to cite this article Bhansali A, Kishan A, Mathur S, Bhansali G. Palmoplantar Keratoderma with Periodontitis. J Health Sci Res 2017;8(2):89-92.

scholarly journals A 38 Years Old Man with ANCA Negative Wegener’s Granulomatosis Vasculitis with Type 2 Diabetes Mellitus and Electrolyte Imbalance: A Case Report

2021 ◽  
Vol 12 (2) ◽  
pp. 309-313
Author(s):  
Bryan Arief Aji Rudita ◽  
Yulyani Werdiningsih ◽  
Arief Nurudhin ◽  
Nurhasan Agung Prabowo ◽  
Zainal Arifin Adnan
Keyword(s):  
Case Report ◽  
Wegener’S Granulomatosis ◽  
Rare Case ◽  
Clinical Symptoms ◽  
Wegener's Granulomatosis ◽  
Electrolyte Imbalance ◽  
Saddle Nose ◽  
Normal Limits ◽  
The Face ◽  
Hands And Feet

A B S T R A C TBackground: Wegener's granulomatosis is a very rare long-term systemicdisorder, in which granuloma formation occurs and inflammation of bloodvessels (vasculitis). The cause of disorder is not yet known, but geneticfactors are thought to play an important role. Clinical symptoms are oftensimilar to other disorders, making diagnosis difficult. However, earlydiagnosis is very important in order to provide effective management.Objective: Diagnosis and management in a rare case of Wegener’sgranulomatosis vasculitis, especially it was found with other comorbidities.Methods: This case report showed a-38-years-old-man that came to theemergency room of Dr Moewardi Hospital with complaints of swellingaccompanied by redness and stiff on the face, hands and feet that worseningsince 7 days ago. He also complained of fever fluctuating, nasal congestionaccompanied by clear discharge and sometimes hearing loss in the rightear. Since the last 3 months, he was often experience similar complaints.History of diabetes was recognized by the patient for 5 years, but he did notregularly take medication. Results: In this case, examination of vital signswithin normal limits. Physical examination revealed a saddle nose with cleardischarge, swelling and redness around the face, hands and feet. Laboratorytests showed hemoglobin 12.9 g/dl, HbA1c 8.4%, sodium level 128 mmol/L,potassium level 3.1 mmol/L, calcium level 1.12 mmol/L. The Anti -Neutrophil Cytoplasmic Antibodies (ANCAs) and Anti Nuclear Antibody(ANA) Indirect Immunofluorescence (IF) method were negative.Electrocardiogram and chest x-ray examination within normal limits.Histopathological examination revealed epidermal atrophy and multiplegranulomas of the dermis. The patient underwent treatment for 10 dayswith tappering-off dose steroid, immunosuppressants, insulin, calcium,and potassium preparations therapy. Conclusions: Wegener’sgranulomatosis vasculitis is a rare case. Prompt and accurate diagnosis andmanagement will prevent poor progression of them, especially it was foundwith other comorbidities.

scholarly journals Pediatric Cutaneous Leishmaniasis in a Private Clinic of Abidjan, Ivory Coast: A Case Report

2021 ◽  
Vol 9 (1) ◽  
pp. 1-4
Author(s):  
N’da Angbeletchi David AKA ◽  
Kalou Dibert Zika ◽  
Gonat Serge Pacôme Dou ◽  
Fatoumata Coulibaly ◽  
Mocket Adolphe Ehouman ◽  
...  
Keyword(s):  
Case Report ◽  
Cutaneous Leishmaniasis ◽  
Chronic Wounds ◽  
Cutaneous Lesion ◽  
Buruli Ulcer ◽  
Private Clinic ◽  
First Case ◽  
The Face ◽  
Diagnostic Hypothesis ◽  
Future Work

Introduction: Cutaneous Leishmaniasis (CL) is a zoonotic disease with global distribution, especially in underdeveloped countries. This parasitic disease is caused by the bite of an infected sandfly. Case Report: We report here the first case of cutaneous leishmaniasis discovered incidentally in an 11-year-old child in a private clinic. He is a primarian boy who had a wound located on his left leg. On questioning, we ascertained that the wound was not the first one and had been present for about 2 months. The cutaneous lesion was painless but itchy. The location, the crateriform appearance, and the chronic nature of the wound led us to suspect a case of cutaneous leishmaniasis. Methods: Microscopic examination of cutaneous exsudation’s smears of lesions revealed amastigote forms of leishmania, confirming our diagnostic hypothesis. The child was placed under Imidazole-based treatment associate cloxacilline. The child also received local gentamycin-based dressings. Results: The child was cured after one month. The diagnostic issues of cutaneous leishmaniasis constitute a great challenge for practitioners in endemic zone. Also, a systematic differential diagnostic should be required in the face of chronic wounds. Conclusion: The integration of the screening and management of cutaneous leishmaniasis against Buruli ulcer are eagerly waited as a future work.

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