Laugier-Hunziker syndrome (LHS) is a rare, idiopathic pigmentary disorder especially affecting the lips and oral mucosa. At present, no more than 200 cases of patients diagnosed with LHS syndrome have been described worldwide. To date, three patients under the age of 20 have been described, including the youngest patient who is a 12-year-old child. The exact etiology of LHS still remains uncertain, as there is no evidence of systemic symptoms or increased cancer risk. The final diagnosis of LHS is possible after the exclusion of other, more serious diseases involving skin-mucosal hyperpigmentation, mainly Peutz-Jeghers syndrome (PJS) and Addison's disease (AD). Herein, we present a 16-year-old patient who has been diagnosed with oral hyperpigmentation since the age of 13. We reviewed the clinical and histological findings. In addition, we discussed the differential diagnosis of mucocutaneous hyperpigmentation. 相似文献
Muir-Torre syndrome (MTS), a subtype of Lynch syndrome II, presents as at least one internal malignancy associated with at least one sebaceous skin tumor. This autosomal-dominant genetic disorder is thought to arise from microsatellite instability. Although not all patients with sebaceous tumors have MTS, even a single biopsy-proven sebaceous adenoma may warrant evaluation for MTS. We report the case of a 76-year-old man with a marked family history of colon cancer; a personal history of colon cancer status post-partial resection of the colon; and multiple cutaneous neoplasms including sebaceous adenomas, sebaceous gland hyperplasia, and basal and squamous cell carcinomas. We review the literature describing MTS and highlight the important role of dermatologists and dermatopathologists in the potential early detection and initial diagnosis of this familial or hereditary colon cancer in patients presenting with cutaneous sebaceous adenomas. Correct diagnosis may be lifesaving in patients with MTS and their at-risk relatives who would benefit from earlier colonoscopy, tumor surveillance, and potential early cancer detection. Muir-Torre syndrome represents yet another dermatologic symptom of an internal disease. 相似文献
We report the case of a 46-year-old Caucasian female presenting with mucocutaneous pigmentation on the lips, oral mucosa, hands, feet and nails, as well as on a psoriatic plaque. She was successfully treated with Q-switched Nd-Yag laser, with double frequency, for both the mucosal and cutaneous lesions. 相似文献
Red ear syndrome (RES) is characterized by the attack-like occurrence of erythema, edema and dysesthesia of one or less frequently both ears. We report the case of a 31-year-old woman with stabbing pain and marked erythema and discrete edema of one ear, existing for 4 months, occasionally accompanied by burning and local hyperhidrosis. Differential diagnoses such as perichondritis, contact dermatitis, erysipelas and other infections were ruled out. Based on her history, the clinical pattern and the unremarkable further diagnostics, we diagnosed RES. A review of the literature is included. 相似文献
Netherton syndrome is a rare disorder inherited in an autosomal recessive pattern consisting of ichthyosiform dermatosis, hair shaft abnormalities (trichorrhexis invaginata), and an atopic diathesis. Patients with Netherton syndrome have been found to have a mutation on chromosome 5q32 in a gene named SPINK5 (serine protease inhibitor, Kazal type-5), which encodes an inhibitor of serine proteases called LEKTI. We report a female patient with previously undiagnosed Netherton syndrome who presented to participate in a clinical research trial investigating the benefit of topical tacrolimus 0.03% ointment [Protopic (Fujisawa Pharmaceutical Co. Ltd., Japan)] for the treatment of atopic dermatitis. This patient was confirmed to have a gene mutation in SPINK5. Current literature suggests a relative contraindication for use of topical tacrolimus in patients with Netherton syndrome owing to concern for increased systemic absorption of the drug. Our patient was not able to tolerate topical tacrolimus owing to local irritation, and did not derive any benefit from therapy. Though rare, when evaluating patients with a possible diagnosis of atopic dermatitis, an index of suspicion for Netherton Syndrome must be maintained. History and overall clinical findings, especially in regards to examination of the hair, will aid in diagnosis. 相似文献
The presence of sebaceous skin tumors with visceral neoplasms is known as Muir-Torre syndrome (MTS). It is a phenotypic subset of hereditary nonpolyposis colorectal cancer and is caused by mutations in genes encoding for mismatch repair (MMR) proteins. The presence of a sebaceous gland neoplasm should raise concern for a potential diagnosis of MTS. Immunohistochemical analysis of the sebaceous skin tumors can be helpful in screening for an MMR defect and preselecting patients who are at increased risk of a visceral malignancy. We report a case of MTS and show immunohistochemical analysis of the sebaceous neoplasm. We also review the literature on MTS and the effectiveness of immunohistochemical analysis in screening patients at risk for MTS. 相似文献
We report a case of an 18-month-old boy with slightly whitened fingernails and toenails since birth. At the age of 100 days, he progressively developed bilateral palmoplantar keratoderma which resulted in painful walking and disabled grasping. Perianal keratotic plaques and perioral hyperkeratotic erythema could also be observed. Both fingernails and toenails were dystrophic. Scalp hairs were sparse, but total alopecia was no present. The histopathologic changes of the biopsy from the inner side of the right foot showed nonspecific changes, which mainly showed highly hyperkeratosis and acanthosis with slight superficial perivascular inflammatory infiltration. A clinical diagnosis of Olmsted syndrome was established according to the typical feature of the lesions, which is the presence of symmetrical palmoplantar keratoderma with periorificial keratotic plaques. We review the literature and present a summary of all reported cases to date. 相似文献
Pseudocarcinomatous (pseudoepitheliomatous) hyperplasia represents reactive epidermal change mimicking squamous cell carcinoma (SCC), owing to a variety of inflammatory and neoplastic phenomena, including deep fungal infections, CD30‐positive lymphomas, and others. We report a case of Sweet syndrome (SS) arising in a patient with acute myelogenous leukemia, with persistent orolabial involvement which mimicked SCC both clinically and microscopically, but resolved entirely with adequate corticosteroid treatment. Clinicians should be aware that neutrophilic dermatoses such as SS and pyoderma gangrenosum may rarely exhibit pseudocarcinomatous epidermal changes similar to those seen in soft tissue infections and other inflammatory dermatoses. 相似文献
Elejalde syndrome is a rare autosomal recessive condition, with only 10 reported cases through 2001. It is characterized by silvery hair, pigment abnormalities, and profound central nervous system dysfunction. The differential diagnosis includes Griscelli and Chediak-Higashi syndromes, which present with silvery hair, pigment abnormalities, central nervous system alterations, and severe immunologic dysfunction. We report a 6-year-old girl with Elejalde syndrome and review Elejalde, Griscelli, and Chediak-Higashi syndromes. 相似文献
A 17‐year‐old woman presented with pruritic papules and plaque wheals on the upper and lower extremities, back, chest, and abdomen, which had appeared 4 months previously. Previous medical history revealed two surgical operations for ovarian cysts (the latter was 2 weeks prior to admittance to the hospital). There was family (brother) but no personal history of atopy, with no known drug allergies. A prior biopsy demonstrated urticaria. Physical examination revealed symmetric, widespread, pink‐red plaques with central clearing mostly on the buttocks, but also on the upper and lower extremities and trunk. With pressure, the lesions almost disappeared. Lymph nodes could not be palpated, and all other systems were normal ( Figs 1‐3 ). Figure 1 Open in figure viewer PowerPoint Edematous plaques of Wells' syndrome are seen on the chest and abdomen 相似文献
FILS syndrome (facial dysmorphism, immunodeficiency, livedo, and short stature) is a rare autosomal recessive disorder caused by pathogenic alterations in the POLE gene leading to multisystemic manifestations, including poorly characterized skin findings. We report a child with a homozygous variant, c.100C > T (p.Arg34Cys), in POLE and features consistent with poikiloderma, expanding the dermatologic signs associated with this rare disorder. Additionally, we review reported cases of FILS syndrome, discuss possible pathomechanisms for our patient's presentation, and consider implications for management. 相似文献