Rare Cases
Relapsing Polychondritis
● Overview:
➣ Relapsing polychondritis (RP) is an autoimmune disease that affects cartilaginous and proteoglycan-rich tissues. It is uncommon, severe, episodic, and progressive.
Ears, nose, larynx, trachea, bronchi, blood vessels, heart, eyes, kidneys, and joints are fre
Congenital Nasal Pyriform Aperture Stenosis (CNPAS):
● Overview:
• CNPAS, a very rare cause of nasal obstruction in infants, is caused by bony overgrowth of the maxillary nasal processes.
• Because babies must breathe via their nostrils, clinical signs include apnoea, respiratory discomfort, recurrent cyanosis, and feeding
Cogan’s syndrome
● Definition: Cogan's syndrome (CS) is a rare, suspected autoimmune condition that is typified by vestibuloauditory symptoms (tinnitus, vertigo, and hearing loss) and inflammatory ocular illness (traditionally non-syphilitic interstitial keratitis, IK).
●Epidemiology:
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Mesenteric panniculitis in Merseyside
◉ Patient A
• The woman is 65 years old.
• Presentation: Obese; mild RUQ soreness; peri-umbilical fullness (intraperitoneal); long history of nonspecific right upper quadrant (RUQ) and peri-umbilical pain.
• Investigations:
• Bilirubin level: 28 μmol/L, somewhat ic
Congenital Pulmonary Alveolar Proteinosis
● Introduction:
➣ Definition: PAP is an uncommon condition that results in decreased gas exchange due to the intra-alveolar accumulation of proteins and lipids produced by surfactants.
➣ Paediatric Forms:
• Severe, frequently autosomal recessive, and early onset is c
Pulmonary Alveolar Microlithiasis
● Introduction:
➣ Definition: PAM is an uncommon chronic lung disease that is typified by the alveoli's diffuse deposition of microliths, or calcium-phosphate concretions.
➣ Epidemiology:
• Usually manifests in adults between the ages of 20 and 40, but may go deca
Acute Esophageal Necrosis
◉ Case 1 –
• Elderly Male with Multiple Comorbidities
• •Age/Sex: man, 79 years old
• Presentation: hypotension (78/58), repeated coffee-ground vomiting, and hemoglobin decrease (12.1 → 8.7 g/dL)
• Past medical history: GERD, HTN, bladder cancer, ESRD (on per
pulmonary actinomycosis
● Introduction:
➣ Definition: Actinomyces species, which are native to the human oral cavity, gastrointestinal tract, and female vaginal tract, are the source of the uncommon bacterial infection known as pulmonary actinomycosis.
➣ Pathogenesis: When the mucosal barrie
Hyper-IgE syndrome
● Introduction
➣Rarity: less than one case per million; around 250 cases have been reported globally.
➣Genetics:
• STAT3-HIES (AD-HIES, OMIM #102582): Stat3 gene (chromosome 17) dominant-negative mutations.
➣ Additional types include:
• DOCK8 mutations in
Neurofibromatosis Type 1 (NF1)
● Introduction:
• The most prevalent autosomal dominant condition, with an incidence of 1:2000–1:3500.
• NF1 is a tumour suppressor gene found on 17q11.2.
50% of mutations are de novo, and 50% are familial.
• By age five, penetration is 100%, although expressiveness
Copa Syndrome
● Background:
➣ Listed under IUIS hereditary immune dysregulatory disorders as Primary Immunodeficiency Disease (PIDD).
➣ It was initially identified as a new autosomal dominant immune dysregulation disease that affected the kidneys, joints, and lungs.
➣ The gene res
Fabry Disease
Introduction
A uncommon, multi-systemic X-linked lysosomal storage illness, Fabry disease is brought on by α-galactosidase A (α-Gal A) deficiency.
causes globotriaosylceramide (Gb3/GL-3) to build up in lysosomes.
Angiokeratoma corporis diffusum is a classic skin condition