Epidermal dysplasia and skeletal deformity in congenital poikiloderma (Rothmund-Thomson syndrome)

Two sisters with congenital poikiloderma (Rothmund-Thomson syndrome) are described. One sister developed numerous keratotic lesions on the skin at an early age; these showed histological, ultrastructural and autoradiographic features of dysplastic change. The second sister had severe skeletal involvement in addition to the cutaneous poikiloderma, but no keratotic lesions. The clinical features of these cases demonstrate the variation in phenotypic expression of this disorder within a single family.     

Rothmund-Thomson综合征进展

Rothmund-Thomson综合征是一种少见的常染色体隐性遗传性皮肤病,主要特征为皮肤异色病、身材矮小、白内障、骨骼畸形和肿瘤易感性尤其是骨肉瘤.研究发现本病与DNA螺旋酶基因RECQL4突变有关,然而目前对RECQL4的分子功能及其相关的细胞途径尚知之甚少.将近年来该病在临床表现、基因研究情况、小鼠模型以及治疗等方面的最新进展进行分析,为下一步研究和治疗提供一些启示.     

Rothmund-Thomson 综合征

报告1例Rothmund-Thomson综合征.患儿男,3岁.先天性皮肤异色及光敏2年余,伴有语言、运动发育迟缓.皮肤科检查:全身皮肤粗糙、干燥,面部、四肢远端及臀部对称性的网状褐色斑,伴有色素减退、毛细血管扩张及萎缩.组织病理示表皮萎缩,界面改变,真皮浅层苔藓样炎性细胞浸润,散在噬色素细胞.基因检测:RecQL4复合...     

Nail changes in Langerhans cell histiocytosis

Nail changes in Langerhans cell histiocytosis are distinctly uncommon. Paronychial erythema, swelling and subungual pustules of the fingernails and toenails were cardinal, and were supported by diffuse as well as dense collections of mononuclear Langerhans cells evidenced by microscopic investigation. Oral administration of co-trimoxazole (800 mg sulphamethoxazole + 160 mg trimethoprim) every 12 h, 50 mg/d cyclophosphamide and 80 mg/d predinisolone were the mainstay of treatment, supported by scalp tar shampoo and local betamethasone lotion application.     

Rothmund—Thomson综合征1例

患者，男性，16岁，临床表现为自出生后10个月开始在面部.耳廊.掌跖.四肢及臀部出现皮肤异色症样改变，伴有脱发.无汗。病理变化为真皮中下层钙盐及类脂质沉积、并可见泡沫细胞，多核巨细胞及肉芽肿样结构。     

Rothmund-Thomson syndrome and osteogenic sarcoma

A female child developed an osteogenic sarcoma of the tibia at the age of 5 years. She was known previously to suffer from the Rothmund-Thomson syndrome. DNA repair studies and photo-testing of the skin were normal. This is the first report of a non-cutaneous malignant neoplasm associated with Rothmund-Thomson syndrome and the possible significance of the association is discussed.     

The distribution and quantification of the Langerhans cell in normal human epidermis

The distribution of the Langerhans cell in normal human skin was determined using the mouse monoclonal antibody NA1/34 in a standard immunoperoxidase technique. Langerhans cells were counted in 106 specimens of clinically and histologically normal skin which was obtained from 95 out-patients (97 specimens) and five cadavers (nine specimens). Langerhans cell density was evaluated both as the number of Langerhans cells overlying 200 basal cells and as the number of Langerhans cells per linear millimetre of surface epidermis. The mean values of Langerhans cell density at each site were as follows: trunk 25 per 200 basal cells/ 32 per linear mm; upper limb 29 per 200 basal cells/33 per linear mm; face and neck 31 per 200 basal cells 34 per linear mm; lower limb 28 per 200 basal cells/32 per linear mm; palm 10 per 200 basal cells/18 per linear mm and sole 11 per 200 basal cells/17 per linear mm.     

Rothmund-Thomson综合征一例基因检测分析

目的:对一例自幼身材矮小、发育迟缓、周身皮肤异色症的患儿进行基因检测,以明确诊断确定病因.方法:收集患儿临床资料,提取患儿及其父母外周血DNA,采用全外显子组测序检测潜在的基因突变,并通过Sanger测序进行验证.结果:该患儿在RECQL4基因上携带两个复合杂合突变:(c.1579dupA)(p.T527fs)和(c....     

Haematological disease in siblings with Rothmund-Thomson syndrome

We report two siblings with Rothmund-Thomson syndrome (RTS); the older sister died of acute myeloblastic leukaemia and the younger sister has a slowly progressive leucopenia. Her prognosis is guarded in view of the increased incidence of neoplasms in this condition. More than 200 cases of RTS have now been reported worldwide.1 This is the first report of siblings with haematological disease and RTS.     

Langerhans cell hyperplasia in scabies: a mimic of Langerhans cell histiocytosis

AIM: In the absence of mites, the histologic diagnosis of human scabies can be difficult. Scabies can mimic a variety of inflammatory and lymphoproliferative disorders. It is under-recognized that scabies can also mimic Langerhans cell histiocytosis. METHODS: Sixteen examples of scabies were reviewed histologically and immunohistochemically (CD1a, CD3, CD20, CD30 and S100). RESULTS: Immunohistochemical labeling showed florid CD1a and S100 positivity in most cases, indicative of Langerhans cell hyperplasia. Scattered CD30+ lymphocytes were also typically present, within a dense infiltrate, primarily composed of T lymphocytes and eosinophils. CONCLUSION: Because of the prominent CD1a+/S100+ component, scabies can mimic Langerhans cell histiocytosis. This finding should be considered in conjunction with scattered CD30+ cells and clinical features to avoid misdiagnosis.     

Langerhans cell histiocytosis associated with myelodysplastic syndrome in adults

BACKGROUND: Myelodysplastic syndrome (MDS) is a group of bone marrow disorders associated with dyplasia of myeloid elements that may have cutaneous manifestations including infections, vasculitis, Sweet's syndrome, pyoderma gangrenosum, erythema elevatum diutinum, and leukemia cutis. These cutaneous manifestations are attributed to the underlying bone marrow defect. Langerhans cell histiocytosis (LCH) is primarily a pediatric disease, and rarely LCH has been described in association with pediatric MDS. We are aware of only a single case report of LCH associated with MDS in an adult. METHODS: We report two new cases of LCH in elderly patients with underlying MDS. The specimens were examined by routine microscopy as well as immunohistochemical stains for S100 protein and CD1a. RESULTS: Both patients were elderly men with established diagnoses of MDS. One presented with a solitary pruritic papule while the other had a 2-year history of erythematous papules involving the trunk and extremities. Histologic examination revealed intraepidermal and dermal collections of mononuclear cells with reniform nuclei. The cells were strongly positive for S100 and CD1a, confirming their identity as Langerhans cells. CONCLUSION: Cutaneous LCH may be associated with underlying MDS in adults and should be considered in the differential diagnosis of cutaneous eruptions in patients with MDS.     

Nail changes in Langerhans cell histiocytosis: a possible marker of multisystem disease

Abstract:  We describe a child with a 6-month history of onycholysis, subungual hyperkeratosis, and hemorrhages in most of her fingernails and toenails. Nail involvement preceded the identification of osteolytic lesions at the mastoid on a cranial computed tomography scan, which was performed because of repeated episodes of acute otitis media. Some weeks later, a small number of erythematous papules developed over the trunk and face. The diagnosis of Langerhans cell histiocytosis was made by histopathologic examination of bone, skin, and bed and matrix nail biopsies. Response to treatment with vinblastine and prednisone was excellent. Nail changes in Langerhans cell histiocytosis are extremely uncommon, particularly as the presenting manifestation of the disease. The role of nail involvement as an unfavorable prognostic sign is unclear.     

Density and morphology of Langerhans cells in basal cell carcinomas of the face and trunk

We investigated the density and morphology of Langerhans cells in epidermal sheets of basal cell carcinomas in chronically sun-exposed skin (face) and less exposed skin (trunk) of 65 patients. Langerhans cells in perilesional and control skin at the same anatomical sites as the tumours were also examined. Two markers (ATPase and OKT6) were used in a parallel fashion to identify Langerhans cells. The density of the cells was reduced, and their morphology was changed in epidermis overlying tumours of both the face and trunk. These alterations were confined to tumour areas, as Langerhans cells in perilesional skin were normal when compared with control skin at both anatomical sites. Results with both markers were the same.     

A patient with Rothmund-Thomson syndrome and all features of RAPADILINO

BACKGROUND: Mutations of the human helicase gene RECQL4 have been identified in a subset of patients with Rothmund-Thomson syndrome (RTS) and in children with the diagnosis of RAPADILINO syndrome (RAdial hypoplasia/aplasia, PAtellar hypoplasia/aplasia, cleft or highly arched PAlate, DIarrhea and DIslocated joints, LIttle size [>2 SDs below the mean in height] and LImb malformation, and slender NOse and NOrmal intelligence). While many features of the 2 genetic disorders overlap, poikiloderma--a hallmark of RTS--has been described as generally absent in RAPADILINO syndrome. OBSERVATIONS: We report herein a patient with RTS who carries a truncating mutation and a newly identified missense mutation of RECQL4. The proband uniquely developed all criteria of RAPADILINO in addition to his prominent skin findings. CONCLUSIONS: Patients with RTS may possess all features of RAPADILINO. Consequently, a genetic approach to RTS and RAPADILINO could be beneficial. This approach may provide a better understanding of the wide variety of related phenotypic findings and improve prognostics.