Laugier-Hunziker syndrome: a case report of the pediatric patient and review of the literature

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.     

Laugier-Hunziker综合征1例及家系调查

报告1例Laugier-Hunziker综合征,并进行家系调查.先证者男,50岁.指(趾)甲色素沉着16年,颊黏膜色素沉着11年.无腹部症状,胃肠镜检查未发现息肉.组织病理检查示基底层黑素增加,真皮乳头色素失禁和少量噬黑素细胞.该家系4代19人中共有1人患本病,其余2人为疑似病例,表现为指(趾)甲不同程度的纵形色素沉着.     

Laugier-Hunziker综合征一例

患者女,37岁,以口唇起色素沉着斑20余年,颊黏膜、牙龈、指(趾)甲起黑色条状斑2年余来我科门诊就诊.患者20余年前发现唇红缘起点状色素沉着斑,逐渐扩大成片状,且颜色逐渐加深,未在意.2年前,患者发现牙龈起黑色斑,颊黏膜条状色素沉着斑,同时右手2,3,4指甲,左手2,3指甲,右足1,2趾甲见条状纵行黑色条纹.     

Muir-Torre syndrome: case report and review of the literature

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.     

Laugier-Hunziker syndrome: case report and treatment with the Q-switched Nd-Yag laser

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.     

色素失禁症一例并文献复习

患儿,女,2个月。因躯干及四肢皮疹2个月就诊。皮肤科检查：躯干及四肢皮肤弥漫分布网状色素沉着斑。双股内侧、手腕部见暗红色大小不一丘疹、水疱,水疱壁厚,尼氏征阴性,部分水疱结痂。皮疹呈泼溅状分布。组织病理示：表皮角化过度,棘层增厚,表皮内见多房性水疱,疱液中可见大量嗜酸性粒细胞。真皮浅层毛细血管周围可见少量淋巴细胞及嗜酸性粒细胞浸润。诊断：新生儿色素失禁症。     

嗜酸性粒细胞增多综合征一例并文献复习

患者,男,79岁。全身皮肤弥漫性潮红、脱屑,咳嗽、气短3个月。多次外周血EC均>1.5×10⁹/L,皮肤活检示海绵水肿性浅层血管周围炎,浸润细胞为嗜酸粒细胞、淋巴细胞。支气管镜活检示支气管黏膜及肺泡间隔内可见少量嗜酸粒细胞浸润。结合临床表现、实验室检查及组织病理改变可明确诊断为嗜酸性粒细胞增多综合征伴皮肤和肺部受累。给予泼尼松75 mg/d,病情逐渐好转。     

变形综合征

报告1例变形综合征.患者男,42岁,具有偏侧肥大、巨趾、脊柱侧凸、线状表皮痣、淋巴管瘤等变形综合征的表现.文中对该病进行文献回顾性总结及对最新诊断标准进行讨论.     

Red ear syndrome: case report and review of the literature

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.     

Netherton syndrome: a case report and review of the literature

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.     

Muir-Torre syndrome: a case report and review of the literature

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.     

Olmsted syndrome: a case report and review of literature

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.     

Blau综合征一例

患儿女,4岁,全身皮肤弥漫性丘疹、红斑、脱屑,大关节处皮下结节伴进行性眼损害3年。患儿出生后3个月出现下肢丘疹,逐渐累及全身。一次高热后出现眼部病变,诊断为双角膜白斑,陈旧性虹膜炎,虹膜后粘连。体检：双角膜散在灰白色混浊,边界清,前房浅,虹膜斑不清,瞳孔不圆,有后粘连。全身浅表淋巴结不大。皮肤科检查：全身弥漫性丘疹、红斑、脱屑、表面粗糙,似鱼鳞病,皮肤皱纹增多,皮温较高,无汗。腕、踝、膝关节部位大小不等的包块,质软,可活动。无红肿疼痛等症状。双眼B超显示双玻璃体混浊,双玻璃体后脱离,玻璃体后界膜下渗出,眼压降低。背部、腰部及手背部皮损及腕部皮下结节活检示：表皮棘层增厚,真皮内可见大量组织细胞、泡沫细胞及多核巨细胞浸润。其余检查无明显异常。诊断：Blau 综合征。此病为常染色体显性遗传性疾病,目前无有效的治疗方法。     

Sweet syndrome with pseudocarcinomatous hyperplasia: A case report and review of the literature

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.     

多重自身免疫综合征一例并文献复习

多重自身免疫综合征（multiple autoimmune syndrome, MAS）是指同一患者至少同时出现3种自身免疫性疾病,本文报道1例。患者,男, 67岁。患有IgA天疱疮、白癜风、斑秃、重症肌无力、胸腺瘤（已切除）、糖尿病,符合MAS诊断。给予长期口服泼尼松,IgA天疱疮病情得到控制。     

Generalized lentigines syndrome: a case report and literature review

报告1例泛发性雀斑样痣综合征.患者女,29岁.出生时即有泛发性雀斑样皮疹,家系3代中有7例该病患者,每代至少有1例患该病.患者心电图有轻度异常,大阴唇发育较差,左侧卵巢较右侧卵巢明显缩小,身材较矮小,智力稍差.该例患者皮疹典型,组织病理呈雀斑样痣改变,家系发病符合常染色体显性遗传模式.     

Elejalde syndrome: report of a case and review of the literature

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.     

Wells' syndrome: report of a case and review of the literature

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     

Filling in the gaps on FILS syndrome: A case report and literature review

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.