CHAPTER 72 Skin lesions associated with gastrointestinal and liver diseases and oral manifestations of gastrointestinal diseases
Travis W. Vandergriff
University of Texas Southwestern Medical Center, Dallas, TX, USA
Many diseases of the gastrointestinal tract have characteristic dermatological manifestations. Such manifestations may develop before, concomitantly with, or after the onset of gastrointestinal diseases. Recognition of the cutaneous manifestations of gastrointestinal diseases may be significant for diagnosis and management purposes. In addition, primary skin diseases may affect the gastrointestinal tract, display characteristic alterations, and/or produce specific complications.
In this chapter, the cutaneous manifestations of diseases with the following overall characteristics are illustrated.
Inherited disorders with an increased risk of gastrointestinal malignancy ( Figures 72.1– 72.6).
Genodermatoses (i.e., inherited skin disorders) with characteristic gastrointestinal manifestations ( Figures 72.7– 72.15).
Paraneoplastic and related syndromes with gastrointestinal and cutaneous manifestations ( Figures 72.16– 72.22).
The cutaneous manifestations of inflammatory bowel disease ( Figures 72.23– 72.37).
Immunologically mediated diseases with gastrointestinal manifestations ( Figures 72.38– 72.58).
The cutaneous manifestations of liver disease ( Figures 72.59– 72.81).
The mucocutaneous manifestations of nutritional deficiencies ( Figures 72.82– 72.85).
Miscellaneous disorders associated with cutaneous and gastrointestinal manifestations ( Figures 72.86– 72.90).
Sebaceous carcinoma. Sebaceous carcinoma is commonly located on or near the eyelids. In some instances, it is seen in patients with Muir–Torre syndrome. Figure 72.1
Source: Courtesy of Joseph Nezgoda, MD, MBA, and Atif Collins, MD.
Keratoacanthoma. In Muir–Torre syndrome, sebaceous tumors and keratoacanthomas occur in association with internal malignancies (e.g., colonic adenocarcinomas, neoplasms of the genitourinary tract). Figure 72.2
Keratoacanthoma. Figure 72.3
Epidermal inclusion cyst. In Gardner syndrome, epidermal inclusion cysts, pilomatricomas, lipomas, fibromas, and desmoid tumors are seen in association with colonic adenocarcinomas. Figure 72.4
Multiple epidermal inclusion cysts. While epidermal inclusion cysts are common sporadic neoplasms of the skin, patients with Gardner syndrome develop numerous cysts in a widespread distribution. Figure 72.5
Lipomas. While lipomas are common sporadic neoplasms of the skin and subcutis, patients with Gardner syndrome develop numerous lipomas. Figure 72.6
Pseudoxanthoma elasticum (PXE). PXE is an inherited connective tissue disease characterized by abnormalities in elastin fibers. Skin lesions dominate in flexural areas and display a cobblestone appearance. Vascular involvement commonly results in hemorrhage (e.g., gastric hemorrhage). Figure 72.7
Hereditary hemorrhagic telangiectasia is characterized by diffuse mucocutaneous telangiectases and visceral arteriovenous malformations. Figure 72.8
Neurofibromatosis type 1 (NF1, von Recklinghausen disease). Cutaneous manifestations of NF1 include café‐au‐lait macules, axillary or inguinal freckling, and neurofibromas. Figure 72.9
A café‐au‐lait macule in a patient with neurofibromatosis type 1. Figure 72.10
Dermal neurofibromas in a patient with neurofibromatosis type 1. Figure 72.11
Blue rubber bleb nevus syndrome is a systemic disease characterized by cutaneous and gastrointestinal venous malformations; its most significant gastrointestinal complication is hemorrhage. Figure 72.12
Blue rubber bleb nevus syndrome. Figure 72.13
Ehlers–Danlos syndrome (EDS). Patients with most subtypes of EDS display skin hyperextensibility and joint hypermobility. Figure 72.14
Acrodermatitis enteropathica, a rare disorder of zinc uptake and metabolism, typically features pink, scaly, psoriasiform plaques in an acral and/or periorificial distribution. Figure 72.15
Acanthosis nigricans (AN) is characterized by hyperpigmented velvety lesions that typically affect skin on the neck, axillae, groin, or other sites. In rare instances, AN signifies a paraneoplastic phenomenon. Figure 72.16
Paraneoplastic acanthosis nigricans, with numerous acrochordons, in a patient with colon cancer. Figure 72.17
Seborrheic keratoses (SKs) are benign skin neoplasms that are quite common and usually multiple. The sign of Leser–Trelat, a rare cutaneous manifestation of internal malignancy (e.g., gastric adenocarcinomas, colon adenocarcinomas, breast carcinoma, lymphoma), represents an abrupt and striking increase in the number and/or size of SKs. Figure 72.18
Seborrheic keratoses. Figure 72.19
Necrolytic migratory erythema, an erosive, painful, pruritic, and typically periorificial eruption that develops in patients with elevated glucagon levels (e.g., patients with pancreatic islet cell tumors or pseudoglucagonoma syndrome). Figure 72.20
Extramammary Paget disease, a rare cutaneous adenocarcinoma that may be unifocal or associated with an underlying adnexal, genitourinary, or gastrointestinal neoplasm. Figure 72.21
Extramammary Paget disease demonstrates intraepidermal scatter of enlarged epithelial cells with mucinous cytoplasm. This pattern can be seen in both primary and secondary types of extramammary Paget disease. Figure 72.22
Alterations of the perianal mucosa signify a manifestation of cutaneous Crohn’s disease. Figure 72.23
Cutaneous Crohn’s disease demonstrates granulomatous inflammation in the dermis. Figure 72.24
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