Discover and read the best of Twitter Threads about #pathology
Most recents (24)
A 71-YO therapy for multiple mieloma, voriconazole for Aspergillus fumigatus sinusitis, prophylaxis with TMP-SMX: febrile neutropenia, nodular lesion on abdominal wall
CT: pulmonary nodule unchanged in last a month
🔬biopsy of pulmonary nodule?
1/8
#Pathologists #haematology
CT: pulmonary nodule unchanged in last a month
🔬biopsy of pulmonary nodule?
1/8
#Pathologists #haematology
🔬: Histiocytic process with granular basophilic cytoplasm and Michaelis-Gutmann bodies (arrows), positive for calcium with von Kossa special stain (arrowhead); findings pathognomonic for malakoplakia.
PULMONARY MALAKOPLAQUIA
2/8
doi.org/10.1093/cid/ci…
#pathTwitter
PULMONARY MALAKOPLAQUIA
2/8
doi.org/10.1093/cid/ci…
#pathTwitter
🧫of the pulmonary nodule:➖
🧫biopsy of the abdominal wall lesion: Rhodococcus equi resistant to TMP-SMX, but susceptible to rifampicin, vancomycin, azithromycin, ciprofloxacin, & imipenem.
RHODOCOCCUS EQUI SUBCUTANEOUS ABSCESS
3/8
doi.org/10.1093/cid/ci…
#microbiology
🧫biopsy of the abdominal wall lesion: Rhodococcus equi resistant to TMP-SMX, but susceptible to rifampicin, vancomycin, azithromycin, ciprofloxacin, & imipenem.
RHODOCOCCUS EQUI SUBCUTANEOUS ABSCESS
3/8
doi.org/10.1093/cid/ci…
#microbiology
A 17-YO: a 3-week of dizziness, headache, & weakness of the R leg
MR: ring-enhancing lesions in the frontal lobe & basal ganglia on the L side (A; T1-W) as well as surrounding edema & midline shift (B; T2-W)
1/6
DOI: 10.1056/NEJMicm2202196
#neurology #radiology #IDTwitter
MR: ring-enhancing lesions in the frontal lobe & basal ganglia on the L side (A; T1-W) as well as surrounding edema & midline shift (B; T2-W)
1/6
DOI: 10.1056/NEJMicm2202196
#neurology #radiology #IDTwitter
IgG ab for Echinococcus multilocularis & E. granulosus: ➖
Surgical excision🔬: necrotic tissue, granulomatous inflammation, echinococcal laminated membrane (C, arrow) & an intact cyst (D, arrow)
RT-PCR: ➕for E. multilocularis
2/6
#parasitology #Pathologists #pathology
Surgical excision🔬: necrotic tissue, granulomatous inflammation, echinococcal laminated membrane (C, arrow) & an intact cyst (D, arrow)
RT-PCR: ➕for E. multilocularis
2/6
#parasitology #Pathologists #pathology
CT imaging of the chest and abdomen did not show any other sites of disease.
CEREBRAL ALVEOLAR ECHINOCOCCOSIS
3/6
DOI: 10.1056/NEJMicm2202196
#microbiology #MedTwitter #Doctor
CEREBRAL ALVEOLAR ECHINOCOCCOSIS
3/6
DOI: 10.1056/NEJMicm2202196
#microbiology #MedTwitter #Doctor
A 14-yo ♂️ lived on a farm: a 1-month history of episodic headaches, vomiting, & papilledema
MR: a multiloculated cyst of the brain (A) with a hypointense rim and small projections in T2 phase (B, arrow)
1/5
DOI: 10.1056/NEJMicm2208104
#neurology #radiology #pediatric
MR: a multiloculated cyst of the brain (A) with a hypointense rim and small projections in T2 phase (B, arrow)
1/5
DOI: 10.1056/NEJMicm2208104
#neurology #radiology #pediatric
Findings suggestive of CYSTIC ECHINOCOCCOSIS.
CT of the body: no other sites of disease.
A craniotomy was performed, during which saline irrigation was used to separate the cyst wall from the brain to avoid rupture.
2/5
DOI: 10.1056/NEJMicm2208104
#IDtwitter #parasitology
CT of the body: no other sites of disease.
A craniotomy was performed, during which saline irrigation was used to separate the cyst wall from the brain to avoid rupture.
2/5
DOI: 10.1056/NEJMicm2208104
#IDtwitter #parasitology
🔬: an echinococcal laminated membrane lined by a germinal layer with daughter cysts (Panel D, arrows) and protoscolices (inset, arrows) with hooklets (arrowhead).
PRIMARY CEREBRAL CYSTIC ECHINOCOCCOSIS FROM ECHINOCOCCUS GRANULOSUS
3/5
#microbiology #Pathologists #pathology
PRIMARY CEREBRAL CYSTIC ECHINOCOCCOSIS FROM ECHINOCOCCUS GRANULOSUS
3/5
#microbiology #Pathologists #pathology
A 32-YO♀️ from Guatemala, Ph+ B-ALL post #chemotherapy: #dyspnea
CT: ground-glass opacities (2A yellow box), interstitial pulmonary edema with septal thickening (2B yellow circles), & pericardial effusion (2C yellow arrows), lymph nodes (2D yellow arrows)
Eosinophilia
1/7
CT: ground-glass opacities (2A yellow box), interstitial pulmonary edema with septal thickening (2B yellow circles), & pericardial effusion (2C yellow arrows), lymph nodes (2D yellow arrows)
Eosinophilia
1/7
Due to normal ejection fraction, the differential diagnosis of dyspnea included non-cardiogenic pulmonary edema, pneumonitis secondary to chemotoxicity, and infection.
2/7
doi.org/10.1016/j.idcr…
#haematology #radiology #IDtwitter
2/7
doi.org/10.1016/j.idcr…
#haematology #radiology #IDtwitter
She progressed to acute hypoxic respiratory failure.
🔬bronchoalveolar lavage: numerous larvae (3A,3B) with short buccal grove (arrow head) and prominent genital primordium (arrow) consistent with STRONGYLOIDES HYPERINFECTION
3/7
#lungdisease #parasitology #Pathologists
🔬bronchoalveolar lavage: numerous larvae (3A,3B) with short buccal grove (arrow head) and prominent genital primordium (arrow) consistent with STRONGYLOIDES HYPERINFECTION
3/7
#lungdisease #parasitology #Pathologists
Whatever we do in medicine has a history.
Hematologists take a sample from the bone marrow (BM) every day. But where do we come from?
A short history 🧵 about BM biopsy.
#MedTwitter #hematology #pathology
Hematologists take a sample from the bone marrow (BM) every day. But where do we come from?
A short history 🧵 about BM biopsy.
#MedTwitter #hematology #pathology
1/
Trepanning:
-oldest known procedure carried out on mankind
-8-10k years old skulls with evidence of medical intervention (found in 🇪🇺, Africa, Asia, New Guinea, Tahiti, New Zealand)
-for headaches, mentalities
-many "patients" survived (evidence of healing of their bones)
Trepanning:
-oldest known procedure carried out on mankind
-8-10k years old skulls with evidence of medical intervention (found in 🇪🇺, Africa, Asia, New Guinea, Tahiti, New Zealand)
-for headaches, mentalities
-many "patients" survived (evidence of healing of their bones)
2/
Celsus (c. 25 BC - c. 50 AD):
-described "trephination"
-recommended it for removal of damaged cranial bones and as a therapeutic measure for relieving headaches
-with a specialized instrument, a surgical modiolus or crown trephine
-encyclopedia "De medicina" before 47 CE
Celsus (c. 25 BC - c. 50 AD):
-described "trephination"
-recommended it for removal of damaged cranial bones and as a therapeutic measure for relieving headaches
-with a specialized instrument, a surgical modiolus or crown trephine
-encyclopedia "De medicina" before 47 CE
A 17-MO♀️, Morocco: fever, pallor, epistaxis, gingival petechiae, lower limbsedema, & hepatosplenomegaly.
Pancytopenia, hypoalbunemia.
Triglyceridemia, ferritinemia, LDH & fibrinogen:⬆️
PT⬇️
Direct Coombs test:➕
🔬myelogram: ?
1/9
#parasitology #haematology #Pediatrics
Pancytopenia, hypoalbunemia.
Triglyceridemia, ferritinemia, LDH & fibrinogen:⬆️
PT⬇️
Direct Coombs test:➕
🔬myelogram: ?
1/9
#parasitology #haematology #Pediatrics
Myelogram revealed the presence of leishmania bodies and figures of hemophagocytosis.
VISCERAL LEISHMANIASIS ASSOCIATED WITH MACROPHAGE ACTIVATION SYNDROME
2/9
doi.org/10.1016/j.idcr…
#Pathologists #microbiology #IDtwitter
VISCERAL LEISHMANIASIS ASSOCIATED WITH MACROPHAGE ACTIVATION SYNDROME
2/9
doi.org/10.1016/j.idcr…
#Pathologists #microbiology #IDtwitter
The patient was put on liposomal amphotericin B and corticosteroid therapy with good clinical and biological evolution.
3/9
#MedTwitter #Doctor
3/9
#MedTwitter #Doctor
01/ Buckle up, everyone, it’s time for a Tweetorial. Been working on this one for a while. This time, I’ll focus on the most common mesenchymal malignancy of the digestive tract: gastrointestinal stromal tumor (GIST). #pathology #gipath #PathTwitter
02/ GIST arises from the interstitial cells of Cajal. It can originate anywhere in the GI tract, though most cases occur in the stomach or small bowel. Rectum cases are uncommon, and GIST is very rare in the esophagus, colon, or appendix.
03/ Old terms for GIST include GANT (gastrointestinal autonomic nerve tumor) and leiomyoblastoma. These terms are no longer used, though you may run across them in older literature.
A 17-year old male presented with a breast lump . Gross and Microscopic images from the excised lump ( shown in the images). Identify the true statement? (Options in the comments) #pathology #PathTwitter #PathTwitterFamily #pathtweetorial #tweetorial #MedTwitter #pathboards
Options:
Diagnosis is juvenile papilomatosis.
Observe "swiss-cheese appearance" in gross and microscopy.
Other conditions with Swiss cheese appearance
Observe "swiss-cheese appearance" in gross and microscopy.
Other conditions with Swiss cheese appearance
🚨 Ever find yourself in need of a cellular cell block for #cytopath workup? Here is my "bulletproof" way of getting it!
You'll need:
1. Conical vial (lab)
2. Sheep's agar (micro)
3. Plating loop (micro)
4. Plasma/Thrombin (blood bank)
5. Wrapping paper (histo)
1/5
#pathology
You'll need:
1. Conical vial (lab)
2. Sheep's agar (micro)
3. Plating loop (micro)
4. Plasma/Thrombin (blood bank)
5. Wrapping paper (histo)
1/5
#pathology
1. Spin down your fluid in a conical vial at high rpm (~1200) for 6-8 mins and remove supernatant
You'll have a soft slurry.
2. Add 3 drops plasma, 3 drops thrombin and spin again to form clot
#pathology #cytopath
2/5
You'll have a soft slurry.
2. Add 3 drops plasma, 3 drops thrombin and spin again to form clot
#pathology #cytopath
2/5
3. Cut out 2 squares of agar
4. In one square, scrape away a shallow "bowl" to place your clotted cell slurry
5. In the other square, trim in 1/2 and use the thin flap to cover the slurry in an agar sandwich. Agar protects pellet from dissolution!
#pathology #cytopath
3/5
4. In one square, scrape away a shallow "bowl" to place your clotted cell slurry
5. In the other square, trim in 1/2 and use the thin flap to cover the slurry in an agar sandwich. Agar protects pellet from dissolution!
#pathology #cytopath
3/5
What we examined. What the cohort was. How they died. An autopsy review from late last year. Our first initial urgent findings. #pathologist #histpathology #PathTwitter #CPC22 #MedTwitter
Tissue with lymphocytic infiltration.
(Blue dots: lymphocytes). The tissue is inflamed.
Example 1
(Blue dots: lymphocytes). The tissue is inflamed.
Example 1
Tissue with lymphocytic infiltration.
(Blue dots: lymphocytes). The tissue is inflamed. The muscle fibres are destroyed.
(Blue dots: lymphocytes). The tissue is inflamed. The muscle fibres are destroyed.
Pathology Report for Fungal Infections #tweetorial
1/9 Histopathological diagnosis of an invasive fungal infection should be PRIMARILY DESCRIPTIVE and must include:
Follow the thread to discover.
📌 The order can vary but try to include them all.
#DCF_path
#PathTwitter
1/9 Histopathological diagnosis of an invasive fungal infection should be PRIMARILY DESCRIPTIVE and must include:
Follow the thread to discover.
📌 The order can vary but try to include them all.
#DCF_path
#PathTwitter
2/9 🍄 The fungal elements you find and their amount:
- Hyphae: Are they Pigmented or non-pigmented, septation and branching (acute angle, right angle or both)
- Yeasts: Their size, form and budding
- Pseudohyphae
#DCF_path #pathology #pathologist
#PathTwitter
- Hyphae: Are they Pigmented or non-pigmented, septation and branching (acute angle, right angle or both)
- Yeasts: Their size, form and budding
- Pseudohyphae
#DCF_path #pathology #pathologist
#PathTwitter
3/9
🍄 Invasion of the tissues and vessels
🍄 The host’s reaction to the infection (inflammation, necrosis, or hemorrhage)
#DCF_path #pathology #pathologist
#PathTwitter
🍄 Invasion of the tissues and vessels
🍄 The host’s reaction to the infection (inflammation, necrosis, or hemorrhage)
#DCF_path #pathology #pathologist
#PathTwitter
When your heart is the most important organ. #Pathologists #Cardiology #cardiologist #MedTwitter #Histopathology #pathology
The heart shows inflamation and lymphocytes attacking the organ seeking the combat the SP #Cardiotwitter #MedTwitter #Pathologists #Cardiology #Histopathology
We have bleeding. Iron deposits. #Cardiology #Pathologists #pathology #Cardiotwitter #Histopathology #IHC
1) Welcome to our new #accredited #tweetorial on the Pathophysiology of #DKD in #T2D: Traditional Teaching and New Insights. Our expert author is Hans-Joachim Anders, MD, @hjanders_hans from @LMU_Uniklinikum of @LMU_Muenchen
2) This #accredited #tweetorial series on the foundations of #kidneydisease #DKD through the lens of #T2D is supported by an independent educational grant from the Boehringer Ingelheim/Lilly Alliance and is intended for healthcare providers.
3) This activity is accredited for #physicians #physicianassociates #nurses #NPs #pharmacists. Past programs still eligible for credit can be found at ckd-ce.com. Faculty disclosures & accreditation statement are at ckd-ce.com/disclosures/. FOLLOW US!
Labeling bio images for AI just got 10x faster🏎. Today, we’re releasing Biodock Autolabel, and it’s kind of magical. We trained it on thousands of bio images so you can use it without training. (1/6)
@BiodockAI #microscopy #pathology #biology
@BiodockAI #microscopy #pathology #biology
Labeling objects is one of the most painful parts of training AI, especially in bio. Clicking 40 times or dragging the pen tool to define an ROI for hundreds of objects takes a very long time. And yet precise labels are so important for AI accuracy. (2/6)
Now, with Autolabel (powered by AI), this becomes two clicks (or one drag!). Our model takes your defined box and generates what it thinks is the precise object polygon label. For most biological objects, it just works, and it’s getting more and more accurate over time. (3/6)
Due to the current outbreak of monkeypox in Western countries, I thought it would be good to review the clinical and pathology of this rare disease. More below.
#monkeypox #pathology #dermpath #dermatology
#monkeypox #pathology #dermpath #dermatology
Previously, monkeypox outbreaks were zoonotic from monkeys or rodents. The current outbreak is human-to-human. Currently, most cases are homosexual males with genital skin lesions.
Incubation period of 1-2 wks, followed by fever, headache, backache, and vomiting. Skin lesions start as macules, then vesicles, papules, pustules, and crusts.
Source of photo: ncbi.nlm.nih.gov/pmc/articles/P…
Source of photo: ncbi.nlm.nih.gov/pmc/articles/P…
1) Welcome to our new #accredited #tweetorial on the Pathophysiology of #DKD in #T2D: Traditional Teaching and New Insights. Our expert author is Hans-Joachim Anders, MD, @hjanders_hans from @LMU_Uniklinikum of @LMU_Muenchen
2) This #accredited #tweetorial series on the foundations of #kidneydisease #DKD through the lens of #T2D is supported by an independent educational grant from the Boehringer Ingelheim/Lilly Alliance and is intended for healthcare providers.
3) This activity is accredited for #physicians #physicianassociates #nurses #NPs #pharmacists 🇺🇸🇪🇺🇬🇧🇨🇦. Past programs still eligible for credit are at ckd-ce.com. Faculty disclosures are at ckd-ce.com/disclosures/. FOLLOW US for regular programs by expert faculty!
Who are pathologists? There's a lot of misinformation about us, and although this isn't an exhaustive list, these are some of the more common stereotypes that need dispelled. #pathology
1. Pathologists are bad communicators.
Medical schools specifically select for students who are excellent at communication. This is an essential skill for any medical doctor.
Medical schools specifically select for students who are excellent at communication. This is an essential skill for any medical doctor.
Pathologists need to be clear and concise in our reports, in our communication with clinicians, and especially giving expert testimony in court. We also speak with patients and families (surprise!)
1/5 In looking at the #frontline #digitisation #RFI for EPR suppliers I note that there isn’t any mention of requirements to populate #sharedcarerecords or support #interoperability standards such as #ukcore. After 20+ years, why doesn’t the NHS centre get this? A short 🧵
2/5 Interoperability is at least as important as the functional list of requirements. Regions (not Trusts and even not ICSs) are standardising on capability, not systems - e.g Maternity, #epma, specialist systems like ophthalmology. EPRs must be able to work with other systems
3/5 Also, how should an #EPR work within a #pathology and a #radiology network not co-terminus with an ICS? These are more organic and high data liquidity through interoperability is key. That’s another interoperability dimension we should be including.
Study from #England looking at the impact of #SARSCoV2 on #brain #pathology in 785 UK Biobank participants (aged 51–81) imaged twice found:
-brain changes in the following regions:
-brain changes in the following regions:
--greater reduction in grey matter thickness and tissue-contrast in the orbitofrontal cortex & parahippocampal gyrus
--greater changes in markers of tissue damage in regions functionally-connected to the primary olfactory cortex
--greater reduction in global brain size.
--greater changes in markers of tissue damage in regions functionally-connected to the primary olfactory cortex
--greater reduction in global brain size.
- infected participants also showed on average larger #cognitive decline between the 2 timepoints
-these imaging and cognitive longitudinal effects were still seen after excluding the 15 cases who had been hospitalized.
-these imaging and cognitive longitudinal effects were still seen after excluding the 15 cases who had been hospitalized.
Our work on Artificial Intelligence and HCC immune signatures in now out in @JHepatology !#AI
#pathology @EASLnews @FondationARC @InfoCancerFoie @Stecarus @jnkath @GhaffariNarmin
@Eric_Vibert @INCa_veillePro
journal-of-hepatology.eu/article/S0168-…
👇👇👇
#pathology @EASLnews @FondationARC @InfoCancerFoie @Stecarus @jnkath @GhaffariNarmin
@Eric_Vibert @INCa_veillePro
journal-of-hepatology.eu/article/S0168-…
👇👇👇
Immune and inflammatory gene signatures may predict HCC sensitivity to immunotherapy, and we thus train AI models to recognize tumors with activation of these signatures directly from HCC histology. We used approx. 350 HCC slides together with RNA seq data (TCGA series)
👇
👇
We investigated different deep learning models, the first being a patch based approach
1/14 🆕 🚨Accelerated article on #breastcancer just out in @nature! #bcsm
We asked:
1️⃣ What drives response to #chemotherapy in #breast #cancer❓
2️⃣ Can we use #machinelearning to predict response to chemotherapy❓
Link: nature.com/articles/s4158…
A 🧵👇👇👇 @OncoAlert
We asked:
1️⃣ What drives response to #chemotherapy in #breast #cancer❓
2️⃣ Can we use #machinelearning to predict response to chemotherapy❓
Link: nature.com/articles/s4158…
A 🧵👇👇👇 @OncoAlert
2/14 We are unable to #predict #response to treatment in clinic…
✅Good response ➡️treatment very effective ➡️better survival
❌Poorer response ➡️treatment less effective ➡️worse survival
Being able to forecast response would be a landmark advance!
✅Good response ➡️treatment very effective ➡️better survival
❌Poorer response ➡️treatment less effective ➡️worse survival
Being able to forecast response would be a landmark advance!
3/14 We ran a study in women with #breastcancer @CUH_NHS+@CRUK_CI:
1️⃣who had a #cancer biopsy (which we analysed)
2️⃣received 18 weeks of chemo+/-targeted therapy
3️⃣had surgery (and we measured how much cancer remained)
We associated PRE-therapy profiles↔️POST-therapy response👇
1️⃣who had a #cancer biopsy (which we analysed)
2️⃣received 18 weeks of chemo+/-targeted therapy
3️⃣had surgery (and we measured how much cancer remained)
We associated PRE-therapy profiles↔️POST-therapy response👇
What is the Experiment, again?
"And #Covid is a project, however one tweezes it apart, of an unelected #billionaire #class that continues to amass enormous almost unthinkable amounts of money and property, beginning a #project of reshaping the #planet."
john-steppling.com/2021/07/what-i…
"And #Covid is a project, however one tweezes it apart, of an unelected #billionaire #class that continues to amass enormous almost unthinkable amounts of money and property, beginning a #project of reshaping the #planet."
john-steppling.com/2021/07/what-i…
"& their influence is now expressed in global corps &, more, in NGOs & institutions such as the #WHO & #WorldBank, the UN, & the #WEF. That they are ignorant of their own hubris is perhaps the most terrifying part of this entire scenario. This is the age of the rigid & weak ego."
#WeekendLecture
#CerebralMicrobleeds #CMB
Radiological construct: small (2–10 mm diameter) round or ovoid #hypointense foci with associated #blooming with enhanced visibility on #MRI sequences sensitive to #susceptibility effects
thelancet.com/journals/laneu…
#CerebralMicrobleeds #CMB
Radiological construct: small (2–10 mm diameter) round or ovoid #hypointense foci with associated #blooming with enhanced visibility on #MRI sequences sensitive to #susceptibility effects
thelancet.com/journals/laneu…
#WeekendLecture
#CMB
🔬#Pathology: recent or old microhaemorrhages
🩸Microvessel injuries, ie: dilatation/fragmentation of the wall, amyloid-ß (in CAA) and fibrin extravasation
🩸Extravasation of red blood cells
🩸#hemosiderin-laden macrophages
karger.com/Article/FullTe…
#CMB
🔬#Pathology: recent or old microhaemorrhages
🩸Microvessel injuries, ie: dilatation/fragmentation of the wall, amyloid-ß (in CAA) and fibrin extravasation
🩸Extravasation of red blood cells
🩸#hemosiderin-laden macrophages
karger.com/Article/FullTe…
#WeekendLecture
In daily practice #CMB represents a radiological marker of #small vessel disease
In general:
🩸Strictly #lobar CMBs👉CAA
🩸Strictly #deep👉hypertension-related SVD ie #arteriolosclerosis
🩸Mixed 👉combination👆, but must think #hereditary #SVD, ie #CADASIL
In daily practice #CMB represents a radiological marker of #small vessel disease
In general:
🩸Strictly #lobar CMBs👉CAA
🩸Strictly #deep👉hypertension-related SVD ie #arteriolosclerosis
🩸Mixed 👉combination👆, but must think #hereditary #SVD, ie #CADASIL
1/
📢 #Pathology #tweetorial alert!
⚕️ Dx: Plexiform #Schwannoma (aka neurilemmoma)
🔬 Multiple (2-50) nodules or foci of fascicular expansion.
🔬Biphasic: dense hypercellular areas (Antoni A) + loose hypocellular areas (Antoni B)
Scroll down ⬇️ #dermpath #BSTPath
📢 #Pathology #tweetorial alert!
⚕️ Dx: Plexiform #Schwannoma (aka neurilemmoma)
🔬 Multiple (2-50) nodules or foci of fascicular expansion.
🔬Biphasic: dense hypercellular areas (Antoni A) + loose hypocellular areas (Antoni B)
Scroll down ⬇️ #dermpath #BSTPath
2/
A plexiform multinodularity is typical of plexiform schwannoma on gross examination.
A plexiform multinodularity is typical of plexiform schwannoma on gross examination.
3/
Usually sporadic (90%)
NF2 associated (5%)
NF2 gene on 22q12 ➡️ merlin.
🆚
Plexiform neurofibroma is associated with germline mutation of NF1 (17q11.2 ➡️neurofibromin)
sciencedirect.com/science/articl…
Usually sporadic (90%)
NF2 associated (5%)
NF2 gene on 22q12 ➡️ merlin.
🆚
Plexiform neurofibroma is associated with germline mutation of NF1 (17q11.2 ➡️neurofibromin)
sciencedirect.com/science/articl…
