This document discusses several gastrointestinal manifestations of dermatologic disorders including epidermolysis bullosa, mastocytosis, hereditary hemorrhagic telangiectasis, and melanoma. It provides case studies and details on clinical features, pathophysiology, and management for each condition. Primary dermatologic diseases can involve the gastrointestinal tract, and systemic diseases may affect both the skin and GI organs simultaneously. Recognition of underlying dermatologic disorders is important for gastroenterologists in making an accurate diagnosis.
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1. Gastrointestinal Manifestations of Dermatologic
Disorders
Prepared by:
Dr.Mohammad Shaikhani.
Assistant professor
Sulaimani University
College of Medicine
Dept of Medicine.
hshields@bidmc.harvard.edu
For Derma postgraduate students
2. Introduction:
Primary dermatologic diseases may involve the GIT or systemic
diseases involving the skin, GI tract& liver simultaneously.
The correct diagnosis relies on the ability of the gastroenterologist
to recognize the underlying dermatologic disorder& include.
Examples:
IBD/Hepatitis C/Celiac disease
Epidermolysis bullosa/Mastocytosis/Hereditary hemorrhagic
telangiectasia/Melanoma
3. Epidermolysis Bullosa: case
A 16-year-old girl with a H/O epidermolysis bullosa& recurrent
mouth ulcers presented with chest pains on swallowing &painful
oral lesions.
An upper endoscopy was performed
4. Epidermolysis Bullosa:
Is an inherited disorder characterized by the formation of blisters
after minor skin trauma.
Scarring may result.
This disorder can affect any epithelialized organ.
Skin Findings
Tense, fluid-filled blisters, erosions, crusts form in response to
minimal trauma.
Scarring frequently occurs.
5. GIT features:
Poor dentition
Esophageal strictures.
Malabsorption
Severe constipation.
Anal fissures.
Trauma from food boluses leads to bullae,ulceration, scarring of
the esophageal mucosa with formation of strictures, more
frequently in the proximal than the distal esophagus
Dysphagia is common.
Pyloric atresia associated with the junctional form& carries a
very poor prognosis.
6. EB:Pathophysiology
Mutations of genes encoding proteins located at epidermis/dermis,
junction forming a link from basement membrane to the dermis.
3 forms are recognized.
1. Simplex: dominant mutations in genes controlling cytokeratins
5/14/tonofilaments& presents with blisters in the lowermost part
of the keratinocytes.
2.The junctional form: recessive mutations in the laminin-5 (type
XVII collagen), affecting hemidesmosomes in the dermis or 6/ 4
integrin genes , characterized by blisters in the lamina lucida.
3. Dystrophic form:dominant or recessive mutations in type VII
collagen, resulting in blisters beneath the lamina densa&other
organs as esophagus, where these same proteins reside.
7. Management:
Supportive.
Minimizing trauma with a soft diet, attention to wound care,
adequate nutrition.
Antireflux measures /PPI may be helpful to minimize eso damage.
Transplantation of genetically modified epidermal stem cells to
improve the adhesion properties of primary keratinocytes
currently is investigated.
The risk of mucosal trauma from endoscopic procedures should
be considered before proceeding.
Esophageal strictures dilated with balloons rather than bougies.
8. Mastocytosis: Case
A 59-year-old woman with recurrent attacks of abdominal pain,
nausea, vomiting& profound dyspnea comes into ER with chest
tightness.
She had self-administered IM epinephrine without improvement.
In the ER, she was tachypneic with diffuse wheezes on exam.
She was placed on solumedrol IV.
The CXR was negative.
H/O mast cell activation syndrome.
Her skin showed patchy erythema on the face / arms.
10. Mastocytosis:derma features
Urticaria pigmentosa,diffuse cutaneous mastocytosis, solitary
mastocytoma of the skin.
The yellow-tan macules involve the extremities, trunk, abdomen,
but spare the palms, soles, scalp.
Biopsy reveals multifocal aggregates of mast cells
Cutaneous mastocytosis, usually is spontaneously regressive when
it develops in childhood.
Patients with systemic mastocytosis generally are older &usually
present with infiltration of multiple organs.
Cutaneous disease is present in only about half of all patients.
11. Mastocytosis:GIT features
Infiltration of liver causes hepatomegaly, liver dysfunction, ascites
Histologic features include aggregates of mast cells both in
sinusoids& periportal areas,but fibrosis is uncommon.
Intestinal involvement associated with nausea, vomiting, abd pain.
Malabsorption, diarrhea,weight loss, hypoalbuminemia are
prominent in some patients.
Histamine release, increase gastric acid leading to PUD with a risk
of bleeding/ perforation.
In systemic mastocytosis, common physical findings include
splenomegaly, lymphadenopathy&bone pain/myalgia secondary to
the infiltration of the musculoskeletal system&BM involvement,
result in anemia& pancytopenia.
12. Mastocytosis: Management
GI manifestations can be managed with interferon alfa& 2-
chlorodeoxyadenosine.
The recent identification of kit / PDGFRA mutations have
modified the therapeutic algorithm.
Although a subset of patients with kit juxtamembrane mutations
(eg, K509I) appear to have a imatinib-responsive disease, the vast
majority with a mutation at codon 816 may be resistant.
Symptomatic treatment of mast cell mediator release usually is
managed with H1/H2- blockers & cromolyn sodium.
CSs are reserved for recurrent or refractory symptoms.
13. Hereditary Hemorrhagic Telangiectasia
(Osler–Weber–Rendu Disease): Case
A 68-year-old man with HHT was admitted with a decreasing Hb
His past history was notable for a partial lung resection of
pulmonary (AVMs)& recent mild CHF.
He was noted to have telangiectases on the face& chest, a bruit in
the right upper quadrant&dark brown stool positive for blood.
A CXR revealed large AVMs in the left lower lobe, as did the
chest&abdominal CT) scans which also showed hepatic AVMs.
The patient underwent an upper endoscopy; bleeding medium-
sized AVMs were seen in the duodenum&jejunum.
14.
15. Hereditary Hemorrhagic Telangiectasia
(Osler–Weber–Rendu Disease):
HHT, a multisystem disease, genetically mediated disorder of
fibrovascular tissue.
The definitive diagnosis based on the Curaçao criteria, require
presence of at least 3 of the following 4 clinical features:
(1) Spontaneous, recurrent epistaxis.
(2) Telangiectases at characteristic sites as lips, oral cavity,
fingers, or nose
(3) visceral lesions as cerebral or spinal AVMs, GI tract
telangiectasias, pulmonary AVMs, hepatic AVMs
(4) A family history of HHT in a first-degree relative.
16. Hereditary Hemorrhagic Telangiectasia
(Osler–Weber–Rendu Disease):Skin
Telangiectases that may be punctate, linear, or spider-like on the
upper body& in the mouth, including the tongue, nasal mucus
membranes&nail beds.
They characteristically blanch partly with pressure but do not
pulsate.
17. Hereditary Hemorrhagic Telangiectasia
(Osler–Weber–Rendu Disease):GIT
HHT should be considered in any patient with bleeding from the
GI tract or with anemia& a history of epistaxis.
In any patient with bleeding, the gastroenterologist should
examine the lips& tongue for telangiectases.
Telangiectases involve GIT organs in 11%–25%, with the stomach
&small bowel being the source of bleeding more than the colon.
Manifestations of bleeding, as IDA, generally begin in 5th decade.
Other clinical manifestations occur secondary to hepatic AVMs,
including high-output CHF, portal HT& biliary ischemia.
18. Hereditary Hemorrhagic Telangiectasia
(Osler–Weber–Rendu Disease):GIT
The exact clinical manifestation depends on which vascular beds
(hepatic artery, hepatic vein, portal vein) is the predominant
shunting (ie,hepatic artery to hepatic vein leads to high-output
heart failure).
Juvenile polyposis may occur in patients with HHT& vice versa.
Patients with early onset GI bleeding should be screened for
juvenile polyps given their malignant potential.
19. Hereditary Hemorrhagic Telangiectasia
(Osler–Weber–Rendu Disease):GIT
The most common symptom, epistaxis, clinically becomes
prominent in puberty.
Recurrent epistaxis is managed conservatively with nasal ointment
, tamponade local treatments as endonasal laser coagulation or
argon plasma coagulation & septodermoplasty.
Antifibrinolytics as aminocaproic acid/ tranexamic acid have met
with some success.
20. Hereditary Hemorrhagic Telangiectasia
(Osler–Weber–Rendu Disease):GIT
GI involvement: there is an inverse relationship between the
number of telangiectatic lesions in the gut&the hematocrit.
Capsule endoscopy has shown 56% prevalence of telangiectases in
the small bowel.
Because the bleeding generally is limited to slow oozing, the
primary management should be frequent checks of the Hb on a
weekly basis to identify patients who need transfusions if oral or
intravenous iron is not sufficient to increase Hb to > 10 g/dL
Estrogen/progesterone should be tried
Argon plasma&embolization.
21. Hereditary Hemorrhagic Telangiectasia
(Osler–Weber–Rendu Disease):GIT
Pulmonary / cerebral complications including pulmonary HT,
paradoxic emboli, air emboli, cerebral abscesses may ocur silently
secondary to pulmonary AVMs&need to be managed proactively.
In patients with pulmonary AVMs, routine antibiotic dental
prophylaxis is recommended for both dental & endoscopic
procedures.
Prophylactic management of the pulmonary AVMs by
embolization or surgical resection should be considered when of 3
mm.
Endothelin-receptor antagonists have been tried.
22. Hereditary Hemorrhagic Telangiectasia
(Osler–Weber–Rendu Disease):GIT
Patients with hepatic AVMs can present with HF, edema,
increased liver function tests, ascites, variceal bleeding, or
encephalopathy,managed intensively with medical means.
Embolization is used only for palliation given the incidence of
hepatic necrosis.
Invasive procedures as liver biopsy or ERCP should be avoided
given the respective risks for bleeding / sepsis.
When medical management fails, referral for a liver transplant
used with increasing success.
Improvement in nose bleeds/telangiectases with the vascular
endothelial growth factor antagonist, bevacizumab, with
interferon, suggesti trial in HHT AVMs.
28. Melanoma: case
A 92-year-old man presented with a 2-week history of dull,
constant periumbilical pain associated with nausea, bilious emesis,
, decreased appetite.
Physical examination revealed a soft abdomen with epigastric
tenderness.
Abdominal radiographs revealed changes consistent with a small-
bowel obstruction.
CT scan showed a small bowel mass with intussusception
Five years previously, the patient had had a malignant mole
removed from his right forearm
30. Melanoma:
Melanoma is a malignant tumor arising from melanocytes related
to both genetic predisposition& sun exposure.
31. Melanoma:skin
Superficial spreading melanoma is the most common type.
It generally presents as an asymmetric macule with irregular
borders, color variation& an enlarging diameter to > 6 mm.
It usually is found on the trunk in men&on the legs in women
from 30 to 50 years of age.
Nodular melanoma is less common & generally a blue- or
blackcolored nodule that may ulcerate & develops rapidly over
several months, generally on the trunk, head, or neck
32. Melanoma:GIT
Skin for suspicious lesions should be an integral part of PE.
Melanoma is the 5th most common cancer in men& the 6th most
common cancer in women.
Referral to a dermatologist is advised for any patient noted to have
atypical, or a large number of, nevi.
RFs: fair skin with freckles, H/O intermittent sun burns&
dysplastic nevi or melanoma.
Melanoma is the most common metastatic tumor to the GI, so any
patient with H/O melanoma, even in the distant past& symptoms of
anemia, IO&/or intussusception, bleeding, or abd pain should be
evaluated for metastases.
Barium/CT may not detect all tumor deposits reliably.
33. Melanoma:management
Surgical excision curative for stages I& II with no nodal or
metastatic disease.
Stage III: evidence of either microscopic or macroscopic nodal
disease , treated with wide excision/ nodal dissection; interferon-
alfa 2b as adjuvant therapy.
Stage IV with metastases are treated with chemotherapy,
radiation,immunotherapy, but the prognosis is very poor, with
only 5% surviving 5 years.
Melanoma in the GI tract may be primary or secondary.
A primary melanoma can arise from any bowel site.
More commonly,melanoma is metastatic from a prior skin lesion.
34. Melanoma:management
Importantly, metastases may present at the time of the primary
diagnosis or decades later.
Metastatic deposits to the gut may be identified by using
fluorodeoxy-glucose PET, which appears to offer greater
diagnostic accuracy than CT/Ba.
Although the prognosis is very poor for metastases to the liver / GI
tract, surgical resection has resulted in both efficacy in palliating
symptoms as obstruction /bleeding & improved survival in select
cases.
35. Hepatitis C:
Chronic HCV is associated with extrahepatic manifestations,
including dermatologic conditions as mixed cryoglobulinemia,
porphyria cutanea tarda& lichen planus.
The efficacy of IFN on skin features are highly variable.
dermatologic side effects of IFN therapy are common, with or
without HCV infection& may complicate assessment of HCV-
associated dermatologic disorders.
Pruritic,eczematous lesions are most common& often resolve on
completion of therapy without dosage alteration.
36.
37.
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39.
40. IBD: Dermatological features
Skin - erythema nodosum 2-4%.
Pyoderma gangrenosum 1-2%
Mouth - aphthous ulcers 10%.
A wide variety of cutaneous conditions are associated with IBD.
In general, their course parallels the GI status,but can precede or
follow the diagnosis of the IBD.
Dermatologists can help clinicians to reach the correct diagnosis &
the best treatment approach, but treatment of the underlying IBD
is essential for the control of the cutaneous associated conditions.
41. IBD: Dermatological features
Seen in 20%, slightly higher in CD than in UC& include:
Pyoderma gangrenosum(PG).
Bowel-associated dermatosis-arthritis syndrome.
Cutaneous Crohn’s disease.
Erythema nodosum
Avariety of vasculitis.
42. IBD dermatological features: PG
The most severe dermatologic manifestation.
Are ulcerating necrotic plaques on their lower extremities.
60% with PG have an associated disease, with Crohn’s being the
most frequent but other diseases including RA,AML, MM& HIV.
Certain drugs, like G-CSF& interferon
2-10% with IBD will eventually develop PG.
Often parallels the severity of their disease,but may precede or
follow episodes of IBD& may initially have a flare associated with
IBD, eventually become chronic& protracted.
43. IBD dermatological features: PG
Often have atypical presentations with pustular &necrotic flares.
PG tends to start with a single or multiple small pustular lesions
that eventually evolve into large ulcerated lesions.
Another feature is pathergy: i.e., new lesions triggered by trauma.
A pustular lesion triggered by trauma may not evolve into an
ulcer &may be the only cutaneous sign of IBD.
The peristomal variant,develop adjacent to the colostomy.
44. IBD dermatological features: PG
DD:
Infections: deep fungal infs, bacterial pyodermus, TB.
Vasculitis, Wegener’s granulomatosis, hallogenodermas,
secondary to high ingestion of iodine or bromides present with
suppurative ulcerated lesions resembling PG.
45. IBD dermatological features: PG
Treatment of the associated disease is the critical point.
In IBD, infliximab is the treatment of choice
For patients with other associated conditions, the standard of care
is systemic steroids, either oral prednisone or methyl-
prednisolone, with cyclosporine or mycofenolate.
Other treatments include thalidomide andmycophenolate mofetil.
Other treatment: plasmapheresis, IV Ig,absorption apheresis.
Surgery as debridement and allografts avoided utill the lesions
are quiescent because of pathergy.
Localized: treated topically with potent steroids or tacrolimus or
intralesional triamcinolone.
46.
47. IBD dermatological features: Bowel-Associated
Dermatosis-Arthritis Syndrome (bowel bypass syndrome)
Also be associated with IBD secondary to an overgrowth of
bacteria: Streptococci, Dientamoeba fragilis, or E coli.
Present with flu-like symptoms.
Bacteria proteoglycan activate complement causing pap/pustules,
severe tenosynovitis &pathergy of cutaneous lesions.
Microscopy shows multiple neutrophils & a low level of vasculitis.
Treatment is for the underlying IBD, with resection, if indicated.
Systemic steroids must be avoided, as may worsen the problem.
Probiotics as used for pouchitis& antibiotics: minocycline,
erythromycin, or metronidazole, may be useful.
48. IBD dermatological features: Cutaneous CD.
A granulomatous, noncaseating skin lesion separated from the GI
tract by normal skin.
It is very rare: 20% have a negative GI history& only
subsequently develop IBD.
The lesions may be adjacent to the GI tract at both ends; perioral
or perianal, or more distant& noncontiguous metastatic lesions.
PPD &CXR done to differentiate from TB& sarcoidosis.
Trt: Metronidazole of choice& If only a few lesions, topical or
intralesional steroids may be useful.
Ssulfasalazine/azathioprine being effective.
Surgical excision is often complicated by wound dehiscence.
49. IBD dermatological features: EN
The most common complication of IBD, other than aphthous
dermatitis.
Presents with multiple,painful, deep nodules on extremities
The nodules,unlike PG do not become fluctuant or ulcerated.
In some,may be large& highly inflamed, while in others minimal
skin changes with only deep pain.
Occurs in 3–10% UC& 4–15% CD
The nodules tend to appear during the acute phase of IBD.
Unlike PG—a chronic, ongoing process—it is short-lived process.
DD: Srept inf, TB, Sarcoid.
50. IBD dermatological features: EN
The treatment should be aimed at the triggering event.
NSAIDs like indomethacin, are often prescribed for 2 or 3 wk,
along with bed rest, leg elevation, prednisone taper, intralesional
or intramuscular triamcinolone in patients with severe flares.
Second-line therapy, rarely needed as colchicine,
hydroxchloroquine, or dapsone.
51. Celiac dis dermatological features:
Dermatitis herpetiformis is well known accompanying CD
DH: Itchy, blistering skin, rash usually on elbows, knees, buttocks,
back, diagnosed with skin biopsy
Cutaneous,mucosal, nail, hair findings were detected in 74.5%,
27.3%, 20.0%,7.3% of patients, respectively.
The most prevalent dermatologic diagnosis was xerosis (69.1%).
No significant relationship was detected between the cutaneous
findings& the duration of illness.
However, the duration was longer in patients with mucosal
findings compared to those without mucosal findings.
It was found that all patients without cutaneous findings were on
a strict gluten-free diet.
52.
53. Celiac dis dermatological features:
Pathophysiology: an abnormal small intestinal permeability allow
the crossing of endogenous or exogenous antigens may provoke the
immunological response, common immune mechanisms, vascular
alterations & vitamin/aminoacid deficiency secondary to
malabsorption.