Facial granulomatous lymphoedema and syringomyelia

The term orofacial granulomatosis was introduced for orofacial lesions which resemble Crohn's disease clinically and histologically in patients without gastrointestinal disease.¹ The Melkersson-Rosenthal syndrome and its oligosymptomatic form Meischers granulomatous cheilitis are usually felt to be part of the same spectrum of disease.² Oedema usually involves tissues of the lower half of the face.² We describe a patient with histological changes consistent with those found in orofacial granulomatosis, but with isolated localized oedema of the right periorbital tissues. The patient also had syringomyelia which has not previously been described in association with orofacial granulomatosis.     

Orofacial granulomatosis and erythema multiforme in an adolescent with Crohn's disease

The cutaneous manifestations of Crohn's disease are myriad. A 15‐year‐old girl presented with recurrent lip swelling and eventual development of diarrhea and targetoid macules on the palms, feet, and back. She was finally diagnosed with Crohn's disease in the setting of a clinical presentation and histopathology consistent with orofacial granulomatosis and erythema multiforme. We review the literature and summarize reported occurrences of these cutaneous diseases in children with Crohn's disease.     

Pediatric patients with orofacial granulomatosis likely to subsequently develop intestinal Crohn's disease: Brief Report

Orofacial granulomatosis (OFG) is an uncommon chronic granulomatous condition presenting as perioral inflammation in the absence of systemic disease. There is continued debate regarding whether OFG is a distinct clinical disorder or a manifestation of orofacial Crohn's disease. Our retrospective review identified 7 patients diagnosed with OFG between 2000 and 2018 at a tertiary pediatric hospital. Four of the 7 patients subsequently developed Crohn's disease with a median delay of 3.1 years (range 0.4-6.9 years). This indicates that gastroenterology evaluation with long-term monitoring for intestinal Crohn's disease is warranted.     

Orofacial granulomatosis: three case reports illustrating the spectrum of disease and overlap with Crohn's disease

We report three cases of orofacial granulomatosis (OFG) to illustrate the spectrum of this disease, and to discuss the appropriate management steps, consider its overlap with Crohn's disease (CD) and raise its awareness among paediatric dermatologists. The term ‘orofacial granulomatosis’ was first used in 1985 to describe granulomas in the orofacial region in the absence of any recognized systemic condition. It is uncommon but becoming increasingly recognized in children. The clinical features of the disease may vary greatly, and often present with subtle changes that can be missed. There is a debate about whether OFG exists as a separate condition or whether it is an oral feature of CD, as some patients go on to develop CD several years later. Identifying those most at risk is important, as ongoing investigations may be necessary. The three cases presented in this series illustrate the range of disease signs and symptoms, and the investigations required.     

Orofacial Granulomatosis Associated with Crohn's Disease

Orofacial granulomatosis (OFG) is a term used to describe swelling of the orofacial area, mainly in the lips, secondary to an underlying granulomatous inflammatory process. OFG has been reported in association with systemic conditions such as sarcoidosis and Crohn''s disease (CD). OFG may precede gastrointestinal disease, such as CD, by several years and may be the only obvious focus of the disease. Herein, we report a patient with OFG and non-symptomatic ulcerations of the ileocecal valve. The patient received intralesional triamcinolone injections every 2 weeks. After 6 weeks, all oral lesions showed marked improvement. The favourable treatment response of this patient suggests that intralesional triamcinolone can be used as a treatment option for patients with CD that have oral lesions. In addition, patients presenting with OFG should be carefully evaluated for gastrointestinal signs and symptoms.     

Manifestation of Crohn's disease in a young woman during the course of treatment for severe form of chronic plaque psoriasis with etanercept

With the growing number of patients with immune‐modulated diseases treated with tumor necrosis factor (TNF) alpha inhibitors, we are more frequently encountering the occurrence of so‐called paradoxical drug reactions. These are basically situations where during the course of the treatment of one disease, the manifestation of another with similar etiopathogenesis occurs, although under normal conditions this newly developed disease responds well to treatment with TNF alpha inhibitors and is indicated for this treatment. Skin reactions are most frequently recorded in the form of induced psoriasis and psoriasiform exanthems. A less common paradoxical reaction is the induction of Crohn's disease, which is most often described in association with the treatment of inflammatory joint diseases with etanercept. We present a case of induction of Crohn's disease during therapy with etanercept, where the primary disease being treated was psoriasis. In the literature, similar cases have only been described sporadically.     

Melkersson-Rosenthal Syndrome with Genitalia Involved in a 12-Year-Old Boy

Melkersson–Rosenthal syndrome (MRS) is an uncommon granulomatous disease characterized by the triad of relapsing facial paralysis, orofacial swelling, and fissured tongue. Genital swelling in MRS is rarely reported. We presented the first case of complete MRS with genital swelling in a child. Biopsy examinations of both the child''s lower lip and penis showed noncaseating granuloma and intralymphatic granuloma infiltration. No symptoms or signs of other systemic disease (Crohn''s disease or sarcoidosis) were observed after 2 years of follow-up. Genetic screening for CARD15/NOD2 in this patient showed negative, which further confirmed the diagnosis of MRS. Eleven other cases of suspected complete or incomplete MRS with genitalia involved were reviewed. Our case emphasizes the specific clinical feature of MRS with genitalia involved, which was genetically different from Crohn''s disease and could be an independent entity. Lymphatic obstruction is responsible for localized edema in MRS.     

Cutaneous manifestations of metastatic Crohn's disease

Metastatic Crohn's disease is a rare cutaneous complication of primary Crohn's disease. It is a granulomatous inflammatory process, similar to the pathogenic mechanism of Crohn's disease, that occurs in sites discontiguous from the gastrointestinal tract. Metastatic Crohn's disease can precede the development of Crohn's disease by months to years, and children are more likely to present with metastatic Crohn's disease in the absence of gastrointestinal symptoms. Given that approximately 30% of individuals with Crohn's disease present in childhood, early recognition of extraintestinal manifestations of Crohn's disease such as metastatic Crohn's disease can aid in timely diagnosis and management of bowel disease. We present data from two pediatric cases of metastatic Crohn's disease recently seen at our institution in addition to the 61 reported cases of pediatric metastatic Crohn's disease in the literature. This review article will focus on the epidemiology, pathogenesis, clinical features, and histology of and treatment options for pediatric metastatic Crohn's disease.     

Orofacial granulomatosis and diet therapy

Orofacial granulomatosis is a nonspecific term that contains a wide variety of granulomatous entities, which share a clinical and histopathological presentation. It manifests as persistent or recurrent orofacial swelling, amongst other findings. Idiopathic orofacial granulomatosis, characterized by an absence of systemic granulomatous disease, is a diagnosis of exclusion. The main differential diagnosis is Crohn’s disease. Its pathogenesis is unknown, however, it seems to be immune-mediated. Patch-test sensitivity to multiple allergens is well documented. Currently, therapeutic options consider restrictive diets, topical, intralesional, and systemic agents. First-line therapy is currently a matter of debate. We present a review of the value of diet therapy in this syndrome, along with two illustrative cases.     

Orofacial granulomatosis in a patient with Crohn's disease

Orofacial granulomatosis encompasses the previously recognized clinical entities Melkersson-Rosenthal syndrome and cheilitis granulomatosa. We report the case of a 39-year-old patient with cheilitis granulomatosa, intestinal Crohn's disease, and optic neuropathy. Cheilitis granulomatosa and optic neuropathy represent 2 rare manifestations of orofacial granulomatosis in Crohn's disease.     

METASTATIC CROHN'S DISEASE OF EXTERNAL GENITALIA

Metastatic Crohn''s disease is an uncommon extraintestinal manifestation of Crohn''s disease. Its hallmark features include the presence of cutaneous noncaseating granulomas that are noncontiguous with the gastrointestinal tract or fistula. We report a rare case of metastatic Crohn''s disease involving the external genitalia in a 14-year-old girl. Diagnosis was based on skin biopsy. Patient had complete recovery on treatment with oral and topical steroids along with azathioprine.     

Cutaneous Crohn's disease treated with infliximab and 4 years of follow up

Metastatic Crohn's disease (MCD) is a rare, non‐contiguous cutaneous manifestation of Crohn's disease. To date, there have been only four reports in the literature of an effective treatment of this condition with infliximab and there are no long‐term follow‐up studies on adult MCD patients treated with infliximab. We present a case of MCD treated with infliximab with 4.5 years of follow up.     

Vulvar swelling as the first presentation of Crohn's disease in children—A report of three cases

Vulvar swelling is a rare manifestation of metastatic Crohn's disease in children. It often predates gastrointestinal symptoms and can be the first presentation of pediatric Crohn's disease. We report three cases of pediatric Crohn's disease presenting with vulvar swelling. We discuss this rare presentation and its treatment and highlight the importance of recognizing it so that prompt investigation and appropriate management can be initiated.     

Further evidence for an association between psoriasis, Crohn's disease and ulcerative colitis

To test the hypothesis that psoriasis is associated with Crohn's disease and ulcerative colitis, 204 patients with inflammatory bowel disease (116 with Crohn's disease and 88 with ulcerative colitis) and 204 age and sex matched controls were interviewed and examined. The prevalence of psoriasis in Crohn's disease (11.2%) and in ulcerative colitis (5.7%), was significantly greater than in the control group (1.5%). The prevalence of psoriasis in first degree relatives of patients with inflammatory bowel disease was also increased. It is suggested that there is a relationship between psoriasis, ankylosing spondylitis, sacroiliitis, peripheral arthropathy and inflammatory bowel disease, which may be explained by common genetic factors.     

Orofacial granulomatosis associated with delayed hypersensitivity to cobalt

Orofacial granulomatosis is a distinct clinical and pathological entity characterized by swelling of the lips and lower half of the face. Ulceration of the oral mucosa may also occur. Granulomas are seen histologically. Orofacial granulomatosis may occur in the Melkersson-Rosenthal syndrome, granulomatous cheilitis of Miescher, oral Crohn's disease, sarcoidosis and focal dental sepsis. The increased prevalence of atopy in patients with orofacial granulomatosis and the association with food intolerance suggests the possibility of a role for allergy in at least some cases.     

Cutaneous Crohn''s disease mimicking Melkersson–Rosenthal syndrome: treatment with methotrexate

A woman with a 5-year history of unilateral orofacial granulomatosis required repeated evaluations (including sequential colonoscopies) to establish the diagnosis of cutaneous Crohn's disease, a condition that proved responsive to low doses of oral methotrexate administered weekly. To our knowledge this is the first report describing the use of methotrexate for treatment of orofacial granulomatosis caused by underlying Crohn's disease.     

Granulomatous cheilitis and Crohn''s disease

A case of granulomatous cheilitis is reported in whom investigations showed intestinal involvement compatible with Crohn's disease, although the patient had no gastrointestinal symptoms. Granulomatous cheilitis (GC) is an uncommon disorder that is characterized by persistent swelling of the lips and a granulomatous histology. Since the report of a case of GC that occurred several years before intestinal lesions appeared,¹ GC has been recognized to be an early manifestation of Crohn's disease. However, to our knowledge only four cases have been reported that initially presented with GC and then developed Crohn's disease.^1–4 Whether GC represents an early manifestation of Crohn's disease or a distinct clinico-pathological entity remains controversial.⁵ We describe a patient with GC who had intestinal lesions compatible with the diagnosis of Crohn's disease, although she had no gastrointestinal symptoms.     

Cheilitis granulomatosa: overview of 13 patients with long-term follow-up--results of management

BACKGROUND: Cheilitis granulomatosa, often regarded as a subtype of orofacial granulomatosis, is characterized by recurrent or persistent swelling of one or both lips. Classically, a non-necrotizing granulomatous inflammation is seen at histologic examination. Although a relationship has been proposed between Melkersson-Rosenthal syndrome (and the monosymptomatic form, cheilitis granulomatosa) and Crohn's disease on the basis of the orofacial swelling and similar histology, several studies of Melkersson-Rosenthal syndrome have not found an association with Crohn's disease. METHODS: The clinical features, histopathology, association with Crohn's disease, and results of nonsurgical and surgical therapy in 13 patients with cheilitis granulomatosa were investigated in a retrospective case study with a mean follow-up period of 8.2 years. RESULTS: There was a low chance of developing Crohn's disease. Most patients in this study responded to nonsurgical treatment modalities. Patients with deterioration of lip swelling usually responded to intralesional injections with triamcinolone or to short courses of systemic glucocorticoids. Nonsteroidal systemic modalities, such as clofazimine, hydroxychloroquine, or sulfasalazine, were alternatives to glucocorticoid regimens, thus avoiding the long-term side effects of corticosteroids. Surgical intervention should only be performed in severely disfiguring cases. CONCLUSIONS: The management of cheilitis granulomatosa remains a challenge. As this study revealed a low chance of developing Crohn's disease, it does not seem justified to inform patients with cheilitis granulomatosa of the possibility that they might develop Crohn's disease. Patients with a negative history of gastrointestinal complaints should not be exposed to routine investigations of the gastrointestinal tract.     

Crohn's Disease Presenting as a Neutrophilic Dermatosis in a 5‐Month‐Old Boy

A 5‐month‐old boy with a previous history of failure to thrive and poor feeding was admitted to the hospital with failure to thrive, oral ulcers, and a generalized vesiculopustular rash that demonstrated a subcorneal pustule and neutrophilic infiltrate on histology. Esophagogastroduodenoscopy and flexible sigmoidoscopy biopsies demonstrated chronic active colitis with granulomas, consistent with the diagnosis of Crohn's disease. Our case represents, to our knowledge, the youngest person reported with this condition in association with Crohn's disease.