Sara Campos

Mucosal and Periungual Telangiectasia as Signs of Systemic Disease

Telangiectasias are a typical feature of systemic sclerosis, mostly in localized variant, and often involve lips and palms.1 However, they can be present in other connective tissue diseases or familiar disorders as hereditary hemorrhagic telangiectasia and Peutz-Jeghers syndrome.2 Nail fold capillary abnormalities, sclerodactyly and digital pitting scars are useful in supporting the diagnosis.3 The frequent internal involvement, with pulmonary disease being the leading cause of death, justifies the importance of high clinical suspicion and close monitoring of these patients. Mucosal and Periungual Telangiectasia as Signs of Systemic Disease

Pseudoainhum numa Doente com Doença Mista do Tecido Conjuntivo: Uma Associação Incomum

The term pseudoainhum is used to describe constricting band(s) around one or more digits in relation to several congenital or acquired diseases. Systemic sclerosis, keratoderma, psoriasis, Reynolds syndrome among others, has been reported to be associated with pseudoainhum development. We report a case of a 54 years old woman with annular constricting bands and micronychia on the fourth and fifth digits of her both hands associated with bilateral distal acrosclerosis. Raynaud’s phenomenon with some years of evolution and, more recent, fatigue and recurrent inflammatory polyarthritis and also antinuclear and anti-U1 nuclear ribonucleoprotein antibodies were present. Therefore, the diagnoses of pseudoainhum with a likely association with mixed connective tissue disease were proposed. Whenever in the presence of pseudoainhum, a detailed workup, including autoimmune disorders screening, is mandatory in order to rule out possible associated syndromes or underlying diseases. The authors present this case as the association between pseudoainhum and mixed connective tissue disease has not been previously reported in the literature.

Líquen Estriado Seguido de Líquen Plano Clássico: Estados dum Espectro de Doença?

O liquen plano classico e o liquen estriado representam duas patologias dentro do grupo das dermatoses liquenoides com caracteristicas clinicas e histologicas bem estabelecidas. No entanto, a possibilidade de uma correlacao entre elas tem sido proposto. Os autores apresentam o caso de uma doente do sexo feminino de 38 anos com diagnostico consecutivo de liquen estriado e liquen plano classico com apenas tres meses de diferenca. De facto alguns autores levantam a questao se existe uma forma intermedia entre estas duas patologias ou se representam extremos opostos da mesma doenca. No entanto estas questoes apenas serao resolvidas quando se identificar por completo a fisiopatologia destas doencas.

Líquen estriado seguido de líquen plano clássico – estados dum espectro de doença?/Lichen striatus followed by classical lichen planus –states of a disease spectrum?

O liquen plano classico e o liquen estriado representam duas patologias dentro do grupo das dermatoses liquenoides com caracteristicas clinicas e histologicas bem estabelecidas. No entanto, a possibilidade de uma correlacao entre elas tem sido proposto. Os autores apresentam o caso de uma doente do sexo feminino de 38 anos com diagnostico consecutivo de liquen estriado e liquen plano classico com apenas 3 meses de diferenca. De facto alguns autores levantam a questao se existe uma forma intermedia entre estas duas patologias ou se representam extremos opostos da mesma doenca. No entanto estas questoes apenas serao resolvidas quando se identificar por completo a fisiopatologia destas doencas.Classical lichen planus and lichen striatus represent separate entities within the group of lichenoid dermatoses with clinical and histologic well-defined differences. A possible relationship between both has been proposed. We present a case of a 38-year-old woman with a consecutive diagnosis of lichen striatus followed by classical lichen planus within 3 months. Some authors have questioned whether there is an intermediate form between these two entities or if they represent different states or opposite ends of the same disease spectrum. These questions are unlikely to be resolved until the pathophysiology of these two diseases is clarified.

The clinical extremes of autoimmune cholangitis

Autoimmune cholangitis (AIC) was first described in 1987 as immunocholangitis in three women who presented with signs and symptoms of primary biliary cholangitis (PBC), but who were antimitochondrial (AMA) negative and antinuclear antibodies (ANA) positive, and responded to immunosuppressive therapy with azathioprine and prednisolone (1). AIC is a rare chronic cholestatic inflammatory disease characterized by the presence of high ANA or smooth muscle antibodies (SMA) but AMA seronegativity. Histologically, AIC exhibits bile duct injury (2). In terms of therapeutics, in addition to response to ursodeoxycholic acid, a prompt response to corticosteroids has also been reported in earlier stages, distinguishing it from PBC. Herein the authors describe two cases with mixed signs of PBC and autoimmune hepatitis (AIH). The diagnostic differentiation between these diseases (AIC, PBC and AIH) is essential because of the different therapeutic strategies. Our cases highlight the importance of clinician awareness of the autoimmune spectrum of liver diseases.

Livedo reticularis after intra-articular hyaluronic acid injection

A 74‐year‐old man presented with a 10‐day history of painful skin eruption on the left knee. The eruption developed 1 week after intra‐articular hyaluronic acid injections on both knees for treatment of osteoarthritis. Examination revealed a blanchable erythematous reticulate patch on the left knee with a violaceous center [Figure 1]. The right knee was normal. Doppler ultrasonography and blood analysis revealed no pathological findings. A punch biopsy of the skin was performed. Histopathological examination showed an amorphous basophilic foreign material consistent with hyaluronic acid present within the vessels of the dermis and hypodermis with associated thrombus formation [Figures 2 and 3]. With a clinical and histological correlation, a diagnosis of livedo reticularis due to intra‐articular hyaluronic acid injection entering the cutaneous vasculature was confirmed. Since there was no evidence of necrosis, the patient was advised rest and treated conservatively with analgesic. The lesion resolved after 4 weeks.

Ulcerative Colitis: Are We Neglecting Its Progressive Character

Introduction: Ulcerative colitis (UC) is a chronic disease but its progressive character, with structural damage, is insufficiently studied. Objectives: To analyze a group of patients without referral bias, regarding its clinical course, the morphological damage, and functional status. Methods: We evaluated UC patients diagnosed between January 1, 2000 and December 31, 2004, living in the direct referral area of the hospital and determined the medication use, colectomy rate, structural damage (“lead pipe,” stenosis, pseudopolyps, fibrous bridges), and anorectal function (prospective evaluation with the Cleveland Clinic Incontinence Score [CCIS] and the Fecal Incontinence Quality of Life Scale). Results: We identified 104 patients, 47% female, with a mean age at diagnosis of 38 ± 17 years, 24% with proctitis, 57% with left colitis, and 19% with pancolitis. In 3 patients, it was not possible to obtain follow-up data. Of the studied patients, 56% needed corticosteroid therapy, 38% immunosuppressants, and 16% anti-tumor necrosis factors (anti-TNFs). After a mean follow-up of 13 ± 2 years, we found structural damage in 25 patients (24%): 5% with proctocolectomy, 15% with “lead pipe,” 16% with pseudopolyps, and 3% with stenosis and fibrous bridges. Reference to functional anorectal disorders was identified in 49%, mostly previous and self-limited episodes of incontinence, but including persistent incontinence in 10% (CCIS 8 ± 4.8). There was an increased incidence of structural damage and anorectal dysfunction in patients who needed corticosteroid therapy (p = 0.001), immunosuppressants (p < 0.001), and anti-TNFs (p = 0.002) and an association of structural damage with anorectal dysfunction (p < 0.001). There was no association between age and anorectal dysfunction, including incontinence episodes. Conclusions: UC is a disease with structural and functional consequences in a significant subset of patients. This should be incorporated when defining the therapeutic strategy.

Uncertainties in the Management of a Lynch Syndrome Patient: A Case Report

Introduction: Lynch syndrome (LS), the most common hereditary colorectal cancer syndrome, is characterized by mutations in mismatch repair (MMR) genes leading to an increased cancer risk, namely colorectal cancer. Case: In the context of surveillance colonoscopy, a 40-mm flat lesion (0-IIa+b, Paris classification) was identified and submitted to piecemeal mucosal endoscopic resection in a 64-year-old LS patient with an MLH1 germline mutation (262delATC) and two previous segmental resections due to metachronous colorectal cancer. Pathology raised the suspicion of superficial submucosal invasive carcinoma with poor differentiation. Immunochemistry showed heterogeneous MLH1 expression and PMS2 loss. In a short-term follow-up colonoscopy, another 30-mm advanced carcinoma was identified. The patient was referred to surgery. Conclusion: This case raises several issues: (1) the potentially fast tumorigenesis and progression to carcinoma in LS and implications for endoscopic screening and surveillance; (2) pitfalls in the interpretation of MMR proteins immunochemistry; (3) the role of endoscopic resection in LS.

Metastatic Crohn’s disease despite infliximab therapy

Metastatic Crohn’s disease is a rare extraintestinal manifestation of Crohn’s disease. It is characterized by polymorphic skin lesions formed by non-caseating granulomas located on anatomical sites distant from the gastrointestinal tract. We report a rare case of metastatic Crohn’s disease, simultaneously displaying multiple clinically heterogeneous cutaneous lesions, in a patient with previously diagnosed Crohn’s disease in remission due to anti-TNF-α use. This case highlights the need for high clinical suspicion and early biopsy in the setting of a patient with Crohn’s disease and persistent skin lesions, even under biologic therapy. Furthermore, it reinforces the need of monitoring of the serum level of infliximab, increasing the dose in case it is low or undetectable.

Unusual Presentation of Tinea Corporis Associated With the Use of a Microneedling Device

2017, Vol 37(7) NP69–NP72