Skin signs of gastrointestinal disease

Author: Dr Jenny Chung, House Officer, Auckland City Hospital, Auckland. Chief Editor: Dr Amanda Oakley, Dermatologist, Hamilton, New Zealand, August 2016.


Dermatological symptoms and signs sometimes precede or accompany gastrointestinal disease. It should be noted that the embryonic origin of the gastrointestinal tract and the skin are closely aligned. 혻

Liver cirrhosis

Common cutaneous manifestations of liver cirrhosis include:

  • Telangiectases
  • Spider angiomas
  • Palmar erythema
  • Terry nails (82%): white proximal (leukonychi) and pink distal nail plate.
  • Haemochromatosis: autosomal dominant iron-accumulation disorder that may cause generalised bronze hyperpigmentation
  • Wilson disease: autosomal recessive disorder of copper metabolism. Signs of Wilson disease include:
    • Kayser-Fleisher ring around iris
    • Pigmentation over the shins
    • Blue lunulae (half-moons) on nails

Nutritional and metabolic disorders

Nutritional deficiency

Malnutrition associated with deficiencies of fat-soluble and water-soluble vitamins often affects the skin.

Fat soluble vitamins:

  • Vitamin A deficiency causes phrynoderma, ie keratotic follicular papules on anterolateral thighs and posterolateral upper arms.
  • Vitamin D deficiency in babies and children results in delayed tooth eruption with poor enamel. In adults, it predisposes to caries.혻혻혻혻
  • Vitamin K deficiency affects coagulation, leading to haemorrhage, purpura and ecchymoses.혻혻혻혻혻혻혻혻혻혻

혻Water soluble vitamins:

Acrodermatitis enteropathica

Acrodermatitis enteropathica is an autosomal recessive inherited form of zinc deficiency that manifest in infancy. It presents with the clinical triad of dermatitis, alopecia and diarrhoea. Skin signs include:

  • Pink, scaly patches and plaques on extremities, periorificial and anogenital sites
  • Can include psoriasiform plaques, vesicular, bullous, pustular or erosive lesions.
  • Hair loss may follow.

Eruptive xanthomas

Eruptive xanthomas are:

  • Caused by accumulation of fat in macrophage cells in the skin
  • Associated with hypertriglyceridaemia, often due to diabetes mellitus

Dermatitis herpetiformis

Dermatitis herpetiformis is associated with:

Skin signs of dermatitis herpetiformis include:

  • Intensely itchy herpetiform vesicles within erythematous or urticated plaques
  • Excoriated erythematous, crusted, grouped papules
  • Symmetrical distribution on extensor surfaces: elbows, knees, shoulders and buttocks

Inflammatory bowel disease

Inflammatory bowel disease (IBD) refers to ulcerative colitis and Crohn disease. There are similarities and differences in their cutaneous manifestations.

Oral aphthous ulcers

Aphthous ulcers are common in both forms of inflammatory bowel disease.

Erythema nodosum

Erythema nodosum (EN) is the most common skin sign of Crohn disease (4-6%) or ulcerative colitis (3%).

Pyoderma gangrenosum

Pyoderma gangrenosum (PG) affects 0.7% of patients with Crohn disease, and 2% with ulcerative colitis.

Perianal fissure/fistulae

Fissures and fistulae are common in Crohn disease (36%) and do not occur in ulcerative colitis.

Swelling of oral cavity/labia

Mucosal oedema affects 8??% patients with Crohn disease and is absent in ulcerative colitis.

Metastatic Crohn disease

Metastatic Crohn disease may cause cutaneous granulomatous plaques, nodules and ulcers.

Epidermolysis bullosa acquisita (EBA)

Epidermolyis bullosa acquisita (EBA) is a rare immunobullous disorder sometimes associated with Crohn disease.혻

Cutanous polyarteritis nodosa

Cutaneous polyarteritis nodosa is a rare form of necrotising, small and medium-sized vasculitis.

Acute neutrophilic dermatosis

Acute neutrophilic dermatosis also known as혻Sweet syndrome, is an autoinflammatory disorder sometimes associated with inflammatory bowel disease. Features include:

Vascular disorders

Henoch-Schonlein purpura 혻혻혻

Henoch-Schonlein purpura (HSP) is an immunoglobulin A-mediated, leukocytoclastic, small-vessel vasculitis.

Degos disease

Degos disease is a small vessel angiopathy, thought to be due to dysregulation of interferon-alfa and the membranolytic attack complex. There are two variants: benign atrophic papulosis and malignant atrophic papulosis.

Hereditary haemorrhagic telangiectasia 혻혻혻혻혻

Hereditary haemorrhagic telangiectasia (HHT) is an hereditary, autosomal dominant, bleeding disorder.

Kaposi sarcoma

Kaposi sarcoma (KS) is human herpes virus 8-associated tumour of endothelial cells.

Blue rubber bleb naevus syndrome혻혻

Blue rubber bleb naevi are venous malformations of skin and gastrointestinal tract.

Pseudoxanthoma elasticum혻혻

Pseudoxanthoma elasticum (PXE) is an inherited disease in which there are calcification and fragmentation of elastin fibres in skin and internal organs.

Ehlers-Danlos syndrome type IV

Ehlers-Danlos syndrome (EDS) type IV is an inheritable connective tissue disease due to a defect in collagen synthesis.

Klippel-Trenaunay-Weber syndrome

Klippel-Trenaunay-Weber syndrome presents in infancy with cutaneous capillary vascular malformation.

Bowel-associated dermatosis-arthritis syndrome

Bowel-associated dermatosis-arthritis syndrome (BADAS, bowel bypass syndrome) presents with recurrent and episodic flu-like symptoms, polyarthralgia and cutaneous lesions.

Hermansky-Pudlak syndrome

Hermansky-Pudlak syndrome is a form of tyrosine-positive oculocutaneous albinism with autosomal recessive inheritance.

Hereditary gastrointestinal tumours

Familial adenomatous polyposis

Gardner syndrome is a variant of familial adenomatous polyposis with numerous adenomatous polyps and mucocutaneous findings, such as:

Hereditary nonpolyposis colorectal cancer

Hereditary nonpolyposis colorectal cancer, also known as Lynch syndrome, is the most common hereditary cancer.

Peutz-Jeghers syndrome

Peutz-Jeghers syndrome is a hamartomatous polyposis syndrome with autosomal dominant inheritance.

Cowden syndrome 혻

Cowden syndrome, or multiple hamartoma syndrome, is characterised by skin lesions and polyposis coli.

Trichilemmomas are benign hamartomas of outer sheath of hair follicles. They are:

Other skin lesions described in Cowden syndrome include:

Bannayan-Riley-Ruvalcaba syndrome

The Bannayan-Riley-Ruvalcaba (BRR) syndrome is a rare germline mutation with hamartomatous polyposis, macrocephaly and mental retardation. Skin manifestations include:

Juvenile polyposis syndrome

Juvenile polyposis syndrome is a rare autosomal dominant disorder associated with hereditary haemorrhagic telangiectasia.


Neurofibromatosis is a common, autosomal dominant, neurodermatosis characterised by:

Cronkhite-Canada syndrome

Cronkhite-Canada syndrome is a sporadic syndrome that affects older adults. It presents with:

Paraneoplastic syndromes associated with gastrointestinal malignancies

Acanthosis nigricans

Acanthosis nigricans is associated with insulin resistance.

?쏷ripe Palms??or palmoplantar keratoderma

Tripe palms are associated with malignant acanthosis nigricans.

Multiple seborrhoeic keratosis

The acute onset of multiple, eruptive seborrhoeic keratosis is known as the sign of L챕ser-Trelat.

Acrokeratosis neoplastica

Acrokeratosis neoplastica혻is also known as Bazex syndrome and is different from Bazex-Dupr챕-Christol syndrome혻associated with basal cell carcinomas.

Glucagonomoa syndrome

Glucagonoma is a rare, glucagon-secreting, pancreatic, alpha cell tumour.


Tylosis is an autosomal dominant form of focal, non-frictional and non-epidermolytic, palmoplantar keratoderma.

Plummer-Vinson syndrome

Plummer-Vinson syndrome is a rare triad of dysphagia, iron deficiency anaemia and oesophageal webs.

Extramammary Paget disease

Extramammary Paget disease is an intraepithelial adenocarcinoma located in and around the anal verge, vulva, or male genitalia.

Carcinoid syndrome

Carcinoid syndrome is the association of intestinal carcinoid with hepatic metastases.


Dermatomyositis is classified as an autoimmune disease.혻In older adults with dermatomyositis, 15??0% have an underlying malignancy of the gastrointestinal tract, pancreas, lung, breast, or ovaries, or non-Hodgkin lymphoma.

Paraneoplastic pemphigus

Paraneoplastic pemphigus (PNP) is a rare acantholytic, mucocutaneous blistering disease.

Related information

Make a donation

Donate Today!