scholarly journals Branchio-oto-renal syndrome: a clinical case

2019 ◽  
Vol 25 (1) ◽  
pp. 5
Author(s):  
Xavier Lagarde ◽  
Mathilde Fenelon ◽  
Jean Christophe Fricain
Keyword(s):  
Medical History ◽  
Rare Disease ◽  
Genetic Study ◽  
Clinical Case ◽  
Autosomal Dominant ◽  
Clinical Criteria ◽  
Dermatology Clinic ◽  
Family Medical History ◽  
The Family ◽  
Renal Abnormalities

Observation: A 19-week-old patient seen in an oral dermatology clinic had small labial commissures pits associated with auricular abnormalities. Similar clinical elements were found in the family medical history. A diagnosis of branchio-oto-renal syndrome (BOR) was quickly evoked. Commentary: BOR syndrome is a rare disease. This autosomal dominant pathology is characterized by facial lesions and renal abnormalities. Diagnosis is based on many clinical criteria. An optional genetic study can sometimes assist in diagnosis.

The family medical history

2004 ◽  
Vol 31 (3) ◽  
pp. 479-495 ◽  
Author(s):  
Robin L. Bennett
Keyword(s):  
Medical History ◽  
Family Medical History ◽  
The Family

scholarly journals Patient experience with family history tool: analysis of patients’ experience sharing their family health history through patient-computer dialogue in a patient portal

2019 ◽  
Vol 26 (7) ◽  
pp. 603-609 ◽  
Author(s):  
Adarsha S Bajracharya ◽  
Bradley H Crotty ◽  
Hollis B Kowoloff ◽  
Charles Safran ◽  
Warner V Slack
Keyword(s):  
Family History ◽  
Electronic Health Record ◽  
Medical History ◽  
Patient Experience ◽  
Family Health ◽  
Health Record ◽  
Patient Portal ◽  
Health History ◽  
Family Medical History ◽  
The Family

Abstract Objective The collection and use of a family health history are important for assessing the patient’s risk of disease, but history taking is often impeded by practical barriers in the office. Provision for patient-computer dialogue, linked with the electronic health record, may enable patients to contribute their history while bypassing these barriers. We sought to assess the patient experience using such a tool. Materials and Methods We linked the family history module of a computer-based medical history to the patient portal of a large academic health system. The interview consisted of 39 primary questions with a predetermined high test-retest reliability. Patients’ results were structured and summarized, and available within their electronic health record. Patients optionally completed a survey about their experience. We inductively analyzed free-text responses collected between 2014 and 2016. Results Among 97 781 patient portal users, 9562 patients accessed and 4223 patients completed the family medical history interview. Of these patients, 1451 completed our survey. Main themes that were identified included (1) patient empowerment, (2) anticipated value, (3) validity concerns, (4) privacy concerns, and (5) reflections on patient-computer dialogue. Patients also provided suggestions for the improvement of future family history tools. Discussion Patients providing their family health information is an example of collaborative electronic work with clinicians and was seen as valuable by those who participated. Concerns related to contextual information and uncertainty need to be addressed. Conclusions Patient-computer dialogue to collect family medical history empowered patients and added perceived value and efficiency to the patient experience of care.

scholarly journals Tuberous sclerosis syndrome: a typical case of a rare disease

2018 ◽  
Vol 94 (4) ◽  
pp. 49-54
Author(s):  
V. A. Okhlopkov ◽  
E. A. Zykova ◽  
O. V. Pravdina
Keyword(s):  
Differential Diagnosis ◽  
Rare Disease ◽  
Tuberous Sclerosis ◽  
Clinical Picture ◽  
Clinical Case ◽  
Autosomal Dominant ◽  
Hereditary Disease ◽  
Typical Case ◽  
Dominant Type ◽  
Autosomal Dominant Type

The article is devoted to a rare hereditary disease from the group of phak omatoses with an autosomal dominant type of inheritance — Pringle — Burnevill disease. The questions of the prevalence of the disease, the variability of the clinical picture, the timeliness of the clinical diagnosis are considered. Particular attention is paid to skin manifestations and their differential diagnosis. A clinical case of this disease is described.

Endogenous Ochronosis with a Fatal Outcome

2012 ◽  
Vol 16 (5) ◽  
pp. 357-360 ◽  
Author(s):  
Inès Zaraa ◽  
Imen Labbène ◽  
Sondes Trojjet ◽  
Dalila Mrabet ◽  
Nihel Meddeb ◽  
...  
Keyword(s):  
Medical History ◽  
Autosomal Recessive ◽  
Renal Involvement ◽  
Fatal Outcome ◽  
Acid Oxidase ◽  
Pigmented Lesion ◽  
Family Medical History ◽  
The Family ◽  
History Of ◽  
Bluish Discoloration

Background: Endogenous ochronosis (EO) is an autosomal recessive inherited disorder where there is incomplete oxidation of tyrosine and phenylalanine due to a lack of the enzyme homogentisic acid oxidase. Objective: We report a singular observation of EO with a fatal outcome. Case Report: We report the case of a 46-year-old man born to consanguineous parents with a medical history of recurrent renal colic and chronic nonspecific arthropathy. On clinical examination, slate blue pigmentation was seen on the cheeks, forehead, and nose, as well as blue-gray patches on all fingernails and bluish discoloration of the gums. Familial investigation revealed that his sister had similar pigmentation on the ears, hands, and fingernails. Histologic examination of a biopsy specimen from a pigmented lesion showed a dermal deposit of an acellular, eosinophilic material without cell reaction. Based on the clinical and histopathologic data, combined with the family medical history, our patient was considered to have EO with mucocutaneous, articular, and renal involvement. Unfortunately, the diagnosis was late because our patient died a few months later of terminal renal failure. Conclusion: Skin signs are the hallmarks of EO and must alert the clinician to look for involvement of vital organs. Renseignements de base: L'ochronose endogène (OE) est une affection héréditaire récessive autosomique où il se produit une oxydation incomplète de la tyrosine et de la phénylalanine en raison d'un manque d'oxydase de l'acide homogentisique. Objectif: Nous présentons une observation singulière d'OE dont l'issue a été fatale. Rapport de cas: Nous exposons le cas d'un homme de 46 ans né de parents consanguins ayant des antécédents médicaux de coliques néphrétiques récurrentes et une arthropathie chronique non spécifique. À l'examen clinique, nous avons observé une pigmentation bleu ardoise au niveau des joues, du front, et du nez, ainsi que des plaques bleu gris sur tous les ongles de doigts et une décoloration bleuâtre des gencives. Une étude des antécédents familiaux a révélé que sa sœur présentait une pigmentation semblable au niveau des oreilles, des mains, et des ongles de doigts. L'examen histologique de l'échantillon de la biopsie pratiquée sur une lésion pigmentée a montré un dépôt cutané de matériel éosinophile acellulaire sans réaction cellulaire. Selon les données cliniques et histopathologiques, combinées aux antécédents médicaux familiaux, notre patient présentait une OE avec une atteinte rénale, articulaire, et muco-cutanée. Malheureusement, le diagnostic a été tardif puisque notre patient est décédé quelques mois plus tard d'insuffisance rénale terminale. Conclusion: Les signes cutanés constituent les caractéristiques de l'OE et ceux-ci doivent alerter le clinicien de manière à ce qu'il cherche la contribution des organes vitaux.

scholarly journals The Value of Family History in Diagnosing Primary Immunodeficiency Disorders

2014 ◽  
Vol 2014 ◽  
pp. 1-3
Author(s):  
Mohamed A. Hendaus ◽  
Ahmad Alhammadi ◽  
Mehdi M. Adeli ◽  
Fawzia Al-Yafei
Keyword(s):  
Family History ◽  
Medical History ◽  
Primary Immunodeficiency ◽  
Morbidity And Mortality ◽  
High Rate ◽  
Omenn Syndrome ◽  
Primary Immunodeficiency Disorders ◽  
Family Medical History ◽  
The Family

Eliciting proper family medical history is critical in decreasing morbidity and mortality in patients with primary immunodeficiency disorders (PIDs). Communities with a common practice of consanguinity have a high rate of PIDs. We are presenting 2 cases where digging deeply into the family medical history resulted in the diagnosis of Omenn syndrome, a possibly fatal entity if not managed in a reasonable period.

scholarly journals Sporadic Progressive Symmetric Erythrokeratoderma: Classical Presentation of a rare Condition

2019 ◽  
Vol 17 (1) ◽  
pp. 69-72
Author(s):  
Kompal Agarwal ◽  
Sudha Agrawal ◽  
Anju Pradhan
Keyword(s):  
Early Childhood ◽  
Rare Disease ◽  
Autosomal Dominant ◽  
Rare Condition ◽  
Palmoplantar Keratoderma ◽  
The Family ◽  
The Face ◽  
History Of ◽  
Erythematous Plaques ◽  
Systemic Abnormality

Progressive symmetrical erythrokeratodermia (PSEK) is a rare autosomal dominant genodermatosis presenting in infancy or early childhood. An 11-year-old male presented with a history of pruritic, erythematous, scaly, hyperkeratotic plaques first noted at 5 years of age, with no history of similar lesions in the family. Cutaneous examination revealed multiple, irregularly shaped, erythematous plaques with fine, shiny white, adherent scaling distributed symmetrically over the face, trunk, inguinal area, bilateral axillae and extensor surfaces of limbs. Palmoplantar keratoderma was present with thickened, yellowish discolored nails. No systemic abnormality was found. The histopathological findings were consistent with PSEK. The case is being reported to increase the awareness about this rare disease.

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