Rare Cases
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
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
Pulmonary Alveolar Proteinosis
● Introduction:
➣ Rosen et al. first reported it in 1958.
Pathology: Impaired gas exchange due to the buildup of amorphous, insoluble, lipoproteinaceous material in the alveoli.
➣ Etiology:
• Originally idiopathic, currently categorised as
• Idiopathic/autoi
Alpha-1 Antitrypsin Deficiency
● Introduction:
•AAT deficiency is a genetically inherited disorder.
•Caused by mutations in SERPINA1 gene → defective/low levels of AAT protein.
•AAT normally protects lungs from neutrophil elastase.
•Deficiency → lung damage (emphysema, bronchiectasis) + liver
Lymphangioleiomyomatosis
● General Background:
A rare multisystem disease that mostly affects the lungs but also affects the kidneys and lymphatics.
● Types:
➣ Sporadic LAM: caused by aberrant proliferation of smooth muscle-like cells, this condition happens without tuberous sclerosis.
➣