About a rare disease misdiagnosed as malignant lymphoma or tuberculosis: Kikuchi-Fujimoto's disease.

Pan Afr Med J. 2018;31:77

Authors: Lahma J, Arkoubi Z, Hejjouji R, Nitassi S, El Ayoubi A, Bencheikh R, Benbouzid MA, Oujilal A, Essakalli L

Abstract
Kikuchi-Fujimoto's disease KFD is a rare and benign cause of cervical lymphadenopathy. It is an anatomoclinical entity of unknown etiology. The confirmation of the diagnosis is always provided by histological lymph node study. The clinical picture sometimes evokes lymphoma or tuberculosis. The evolution is generally favorable with spontaneous healing after a few weeks. We report the case of a 26-year-old woman who had consulted for cervical lymphadenopathy associated with fever. The cervical lymph node biopsy concluded to Kikuch-Fujimoto's disease. The evolution was marked by rapid regression of lymphadenopathy under corticosteroid treatment.

PMID: 31007824 [PubMed - indexed for MEDLINE]

Unusual case of cellulitis due to primary cutaneous histoplasmosis.

BMJ Case Rep. 2018 Dec 14;11(1):

Authors: Paul V, Kuhlenschmidt MS

Abstract
A 63-year-old white man with a history of rheumatoid arthritis on adalimumab was admitted to the hospital for left arm swelling and erythema. On physical examination, the patient was afebrile and non-toxic appearing and there was tense oedema of the left forearm. Initial laboratory work was unremarkable except for elevated inflammatory markers. MRI of the arm showed non-specific findings of inflammation. The patient was started on empiric antibiotics but did not improve. Given the patient's immunosuppression, early consideration was given to fungal or mycobacterial causes. Initial serum fungal studies were negative and the patient was taken for diagnostic local incision and biopsy of the left volar forearm. Grocott's methenamine silver and periodic acid-Schiff staining revealed fungal organisms resembling Histoplasma and intraoperative fungal cultures grew Histoplasma capsulatum confirming the diagnosis. The patient was treated with a 6-month course of itraconazole with improvement in his condition and eventual complete resolution.

PMID: 30567261 [PubMed - indexed for MEDLINE]

7 new pubmed citations were retrieved for your search. Click on the search hyperlink below to display the complete search results:

"Rare Diseases"[Mesh] OR "orphan disease"

These pubmed results were generated on 2019/04/30

PubMed comprises more than millions of citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites.

The natural history of classic galactosemia: lessons from the GalNet registry.

Orphanet J Rare Dis. 2019 Apr 27;14(1):86

Authors: Rubio-Gozalbo ME, Haskovic M, Bosch AM, Burnyte B, Coelho AI, Cassiman D, Couce ML, Dawson C, Demirbas D, Derks T, Eyskens F, Forga MT, Grunewald S, Häberle J, Hochuli M, Hubert A, Huidekoper HH, Janeiro P, Kotzka J, Knerr I, Labrune P, Landau YE, Langendonk JG, Möslinger D, Müller-Wieland D, Murphy E, Õunap K, Ramadza D, Rivera IA, Scholl-Buergi S, Stepien KM, Thijs A, Tran C, Vara R, Visser G, Vos R, de Vries M, Waisbren SE, Welsink-Karssies MM, Wortmann SB, Gautschi M, Treacy EP, Berry GT

Abstract
BACKGROUND: Classic galactosemia is a rare inborn error of carbohydrate metabolism, caused by a severe deficiency of the enzyme galactose-1-phosphate uridylyltransferase (GALT). A galactose-restricted diet has proven to be very effective to treat the neonatal life-threatening manifestations and has been the cornerstone of treatment for this severe disease. However, burdensome complications occur despite a lifelong diet. For rare diseases, a patient disease specific registry is fundamental to monitor the lifespan pathology and to evaluate the safety and efficacy of potential therapies. In 2014, the international Galactosemias Network (GalNet) developed a web-based patient registry for this disease, the GalNet Registry. The aim was to delineate the natural history of classic galactosemia based on a large dataset of patients.
METHODS: Observational data derived from 15 countries and 32 centers including 509 patients were acquired between December 2014 and July 2018.
RESULTS: Most affected patients experienced neonatal manifestations (79.8%) and despite following a diet developed brain impairments (85.0%), primary ovarian insufficiency (79.7%) and a diminished bone mineral density (26.5%). Newborn screening, age at onset of dietary treatment, strictness of the galactose-restricted diet, p.Gln188Arg mutation and GALT enzyme activity influenced the clinical picture. Detection by newborn screening and commencement of diet in the first week of life were associated with a more favorable outcome. A homozygous p.Gln188Arg mutation, GALT enzyme activity of ≤ 1% and strict galactose restriction were associated with a less favorable outcome.
CONCLUSION: This study describes the natural history of classic galactosemia based on the hitherto largest data set.

PMID: 31029175 [PubMed - in process]

[Sjögren's syndrome update: Clinical and therapeutic aspects].

Rev Med Interne. 2019 Apr 23;:

Authors: Nocturne G

Abstract
Sjögren's syndrome (SS) is a systemic orphan disease. It is characterized by the involvement of epithelial tissues leading to the term of autoimmune epithelitis. New classification criteria have been developed in 2016. New scores have also been developed: a patient-reported outcome called ESSPRI and a score assessing systemic activity of the disease called ESSDAI. These new tools are very helpful to better stratify patients and to customize the management of this very heterogeneous disease. Among the autoimmune diseases, SS is associated with the highest risk of lymphoma. Five to ten percent of the patients will have a B cell lymphoma mostly a low-grade lymphoma developing from mucosa-associated lymphoid tissue (MALT). Major advances have been made in this field: pathogeny is better understood, new predictors are available and progresses have been made in the management of this severe complication. Research in the field of SS is very dynamic as illustrated by the high number of therapeutic trials. There is hope that these innovations, reviewed in the present article, will have potential significant repercussions for the patients in the next few years.

PMID: 31027874 [PubMed - as supplied by publisher]

Modern methods in diagnostics and research of molecular bases of rare diseases.

Cas Lek Cesk. Summer 2018;157(3):133-136

Authors: Kmoch S, Zeman J

Abstract
Rare diseases represent a heterogeneous group of approximately 8000 various disorders and affect nearly 8 % of the population. The local and international studies of human genomes help to increase the knowledge about genetic variability of the man and due to effective sharing of clinical and molecular data in the registries enable casual diagnostics of the broad spectrum of rare and complex diseases in 55-65 % of the cases. With the diagnostics in the remaining group of patients, new methods and technologies studying human genome are of importance including genetic and functional analyses of genomic variants and their combinations with the aims to recognize and interpret the significances of the somatic mosaics, genetic heterogeneity of individual disorders, the presence of eventual phenocopy, different penetrance and expressivity of individual mutation and diseases with the oligogenic inheritance. Recently, the increasing significance of analyses of noncoding regions in human DNA were recognized including the impact of repetitive and homologs regions on transcription and structure of mRNA. For the diagnostics of genetic causality in patients is necessary to focus on analyses of biologic fluids, tissues, cultivated cells and animal models prepared by methods of cell reprogramming or directed mutagenesis. In this paper, the overview of methods and their importance and limitation is described including whole exome sequencing (WES), whole genome sequencing, functional and homolog cloning, functional complementation, mapping of genes with the help of binding analyses and matching of the results from individual genome with genetic variability in the adequate population. In our institutions, we performed WES in > 520 patients with successful diagnostics above 50 %. In addition, in our group of 225 patients with rare diseases we compared the result of WES with the results of direct sequencing of individual genes indicated by clinical geneticist from various regions of the country and we recognized much higher diagnostic and economic value of WES. Modern diagnostics of rare diseases is time and money consuming and requires close cooperation between patients, their families, attending physicians, clinical geneticists and experts from various laboratories involved in biologic oriented research. It represents a big challenge for organisers and payers of the health care system. Keywords: are diseases, complex disorders, whole exome sequencing, gene mapping.

PMID: 30441942 [PubMed - indexed for MEDLINE]

Primary Cutaneous Osteosarcoma.

S D Med. 2018 Apr;71(4):164-166

Authors: Fiegen AP, Tjarks BJ, Jassim AD

Abstract
Primary cutaneous osteosarcoma is an exceedingly rare malignant mesenchymal neoplasm of the skin which produces bone, osteoid, or chondroid material and does not involve the underlying bone. The most common site for extraskeletal osteosarcoma is in the deep soft tissues of the thigh, upper extremities, and retroperitoneum; however, it may occur anywhere in the body. Involvement of the skin is rare and when it does occur it is more commonly due to metastatic disease rather than a primary malignancy. Only 16 cases of primary cutaneous osteosarcoma have been described in the literature. We report an uncommon case of primary cutaneous osteosarcoma. Our patient is an 84-year-old male with an unremarkable medical history who presented to the dermatology clinic complaining of a 0.5 x 0.4 cm pink flesh to translucent-appearing, shiny, papule on the right superior jawline which was not connected to the underlying bone. Clinically the differential diagnosis included basal cell carcinoma, trichoepithelioma, and other cutaneous adnexal tumors. An excisional biopsy was performed which demonstrated an unremarkable epidermis with a hypercellular reticular dermis with occasional large spindled cells with amphophilic cytoplasm. The deep dermis was involved by mature osteoid formation and infiltration of highly mitotically active, atypical epithelioid and spindled cells with abundant nuclear pleomorphism, amphophilic cytoplasm, and poorly defined cell borders. Occasional multinucleate forms were seen. Immunohistochemistry was performed which showed strong positive staining with vimentin. Without connection to the underlying bone, osteosarcoma of periosteal, parosteal, or osseous origin was excluded. Based on these histomorphologic findings, a diagnosis of primary cutaneous osteosarcoma was made. Our case adds to the dearth of literature regarding primary cutaneous osteosarcoma and provides primary care physicians, dermatologists, and pathologists much needed insight into this rare condition.

PMID: 29996033 [PubMed - indexed for MEDLINE]

A Very Rare Case of Sarcoid-Lymphoma Syndrome Imposing an Intriguing Diagnostic Challenge.

S D Med. 2018 Mar;71(3):108-111

Authors: Jbeli AH, Sunassee A, Sanford A, Elshami A, Bleeker J

Abstract
An enigmatic association between sarcoidosis and lymphoma has been proposed in the past. This poses a significant diagnostic challenge, especially when the time interval is less than one year between the two diagnoses. A 54-year-old male patient presented to his primary care physician with worsening acute kidney injury and hypercalcemia. His chest x-ray showed bilateral interstitial nodular thickening and mild bilateral hilar fullness. After a diagnostic workup, the patient was diagnosed with sarcoidosis and started on prednisone. He initially improved, but returned with acute kidney injury, hypercalcemia, and generalized lymphadenopathy. An excisional lymph node biopsy was positive for diffuse large B-cell lymphoma. Our case illustrates the sarcoidosis-lymphoma syndrome. Although there is no recommendation to screen patients with sarcoidosis for malignancy, it is crucial to be aware of this association and to evaluate any new or enlarging lymphadenopathy with a biopsy. It is essential to assess response to prednisone in patients with sarcoidosis.

PMID: 29991096 [PubMed - indexed for MEDLINE]

13 new pubmed citations were retrieved for your search. Click on the search hyperlink below to display the complete search results:

"Rare Diseases"[Mesh] OR "orphan disease"

These pubmed results were generated on 2019/04/26

PubMed comprises more than millions of citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites.

9 new pubmed citations were retrieved for your search. Click on the search hyperlink below to display the complete search results:

"Rare Diseases"[Mesh] OR "orphan disease"

These pubmed results were generated on 2019/04/25

PubMed comprises more than millions of citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites.

A novel missense mutation in TFAP2B associated with Char syndrome and central diabetes insipidus.

Am J Med Genet A. 2019 Apr 22;:

Authors: Edward HL, D'Gama AM, Wojcik MH, Brownstein CA, Kenna MA, Grant PE, Majzoub JA, Agrawal PB

Abstract
Char syndrome is characterized by persistent patent ductus arteriosus (PDA) associated with hand-skeletal abnormalities and distinctive facial dysmorphism. Pathogenic variants in the transcription factor gene TFAP2B have been shown to cause Char syndrome; however, there is significant phenotypic variability linked to variant location. Here, we report a pediatric patient with a novel de novo variant in the fifth exon of TFAP2B, c.917C > T (p.Thr306Met), who presented with PDA, patent foramen ovale, postaxial polydactyly of the left fifth toe and clinodactyly of the left fourth toe, sensorineural hearing loss, scoliosis, dental anomalies, and central diabetes insipidus (CDI). CDI, scoliosis, and hearing loss have not previously been reported in a patient with Char syndrome, and while the association may be coincidental, this report expands the genotypes and potentially phenotypes associated with this syndrome.

PMID: 31012281 [PubMed - as supplied by publisher]

Immune globulin potency in the 21st century: views from the patient community.

Transfusion. 2018 12;58 Suppl 3:3054-3055

Authors: Boyle JG

PMID: 30414193 [PubMed - indexed for MEDLINE]

7 new pubmed citations were retrieved for your search. Click on the search hyperlink below to display the complete search results:

"Rare Diseases"[Mesh] OR "orphan disease"

These pubmed results were generated on 2019/04/23

PubMed comprises more than millions of citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites.

7 new pubmed citations were retrieved for your search. Click on the search hyperlink below to display the complete search results:

"Rare Diseases"[Mesh] OR "orphan disease"

These pubmed results were generated on 2019/04/23

PubMed comprises more than millions of citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites.

10 new pubmed citations were retrieved for your search. Click on the search hyperlink below to display the complete search results:

"Rare Diseases"[Mesh] OR "orphan disease"

These pubmed results were generated on 2019/04/20

PubMed comprises more than millions of citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites.

[Diagnostic and treatment pitfalls and guidelines for variants of squamous cell carcinomas of the head and neck: on behalf of the REFCOR].

Bull Cancer. 2019 Apr;106(4):395-403

Authors: Thariat J, Hourseau M, Baglin AC, Digue L, Vulquin N, Badoual C, Baujat B, Janot F, Ferrand FR, Barry B

Abstract
Among the 20,000 new cases of head and neck neoplasms in France each year, squamous cell carcinomas (HNSCC) represent about 90 % of the cases. Among these, variants of conventional squamous cell carcinomas represent between 5% and 10% of cases. Patient history and risk factors are often similar from those of conventional HSNCC. Variants may, however, be misdiagnosed, which can lead to therapeutic mismanagement due to confusion with sarcomas, glandular tumors or even benign tumors. Diagnostic workup needs to be more cautionary or to include additional exams not to omit their most aggressive component in the case of composite tumors or to under stage the tumor. Immunohistochemistry and specific molecular analyses may be required for proper diagnosis. Central pathological review may also be essential for some of these variants. In addition, some variants are radioresistant and, conversely, others are radiosensitive. An update of the REFCOR 2008 standards was carried out in the light of the international literature and the 2017 WHO/IARC classification for the seven main variants of HNSCC, verrucous, acantholytic (to be named adenoid carcinomas), basaloid, papillary, spindle cell (incorrectly named sarcomatoid), adenosquamous and lymphoepithelial carcinomas.

PMID: 30878134 [PubMed - indexed for MEDLINE]

6 new pubmed citations were retrieved for your search. Click on the search hyperlink below to display the complete search results:

"Rare Diseases"[Mesh] OR "orphan disease"

These pubmed results were generated on 2019/04/18

PubMed comprises more than millions of citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites.

8 new pubmed citations were retrieved for your search. Click on the search hyperlink below to display the complete search results:

"Rare Diseases"[Mesh] OR "orphan disease"

These pubmed results were generated on 2019/04/17

PubMed comprises more than millions of citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites.

8 new pubmed citations were retrieved for your search. Click on the search hyperlink below to display the complete search results:

"Rare Diseases"[Mesh] OR "orphan disease"

These pubmed results were generated on 2019/04/17

PubMed comprises more than millions of citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites.

31 new pubmed citations were retrieved for your search. Click on the search hyperlink below to display the complete search results:

"Rare Diseases"[Mesh] OR "orphan disease"

These pubmed results were generated on 2019/04/16

PubMed comprises more than millions of citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites.