Autosomal recessive dyskeratosis congenita: a case report and TERT gene mutation analysis / 中华皮肤科杂志

Objective:To report a case of autosomal recessive dyskeratosis congenita, and to detect mutations in its causative genes.Methods:Peripheral blood samples were collected from the proband and her parents, genomic DNA was extracted, and 100 unrelated healthy individuals served as controls. The Illumina Nextseq500 sequencer was used to detect sequence variations in coding regions of exons of the skin disease-related genes in the proband′s family, and the causative mutation was verified by PCR-Sanger sequencing. The conservation and pathogenicity of gene mutation sites and corresponding protein structure changes were predicted by using bioinformatics softwares Clustalw2.0, PyMOL, PolyPhen-2, SIFT and FATHMM.Results:The proband clinically presented with reticular poikilodermatous patches on the neck and chest, punctate pigmentation on the axilla, atrophy of some toenails, rough skin and oral leukoplakia, accompanied by abnormality in some indicators of routine blood tests and liver function. Genetic testing showed that the proband carried compound heterozygous mutations c.2452G>A (p.Val818Met) and c.2594G>A (p.Arg865His) in the TERT gene, and the c.2452G>A mutation was not included in the Human Gene Mutation Database. The proband′s mother carried a heterozygous mutation c.2452G>A, and no mutation was identified in the TERT gene of her father or 100 healthy controls. Bioinformatics analysis showed that the amino acid positions 818 and 865 of TERT proteins in multiple species were highly conserved and completely conserved respectively, and the corresponding protein structures changed after the above gene mutations. Based on the clinical manifestations, genetic testing, auxiliary examinations, and bioinformatics analysis results, the patient was finally diagnosed with autosomal recessive dyskeratosis congenita.Conclusion:The compound heterozygous mutations c.2594G>A (p.Arg865His) and c.2452G>A (p.Val818Met) in the TERT gene may be responsible for the clinical phenotype of the proband.

A case of Carvajal syndrome caused by a spontaneous mutation in the desmoplakin gene / 中华皮肤科杂志

Objective@#To report a case of Carvajai syndrome caused by a spontaneous mutation in the desmoplakin (DSP) gene.@*Methods@#Clinical data were collected form a patient with Carvajal syndrome in Department of Dermatology, The First Affiliated Hospital of Zhengzhou University. Peripheral blood samples were obtained from the proband, his parents and 100 unrelated healthy controls, and blood genomic DNA was extracted. The ion torrent PGM second-generation sequencing platform was used to detect sequence variations in coding regions of exons in skin disease-related genes in the proband and his parents, and the pathogenic variation was verified by PCR-Sanger sequencing.@*Results@#The proband clinically presented with woolly hair, diffuse palmoplantar keratoderma, onychodysplasia, hypodontia and sinus arrhythmia as shown by electrocardiogram. Gene sequencing revealed a heterozygous missense mutation c.1790C>T (p.Ser597Leu) in exon 14 of the DSP gene in the proband, resulting in the substitution of serine by leucine at amino acid position 597. No mutation was identified in the proband′s parents or the 100 healthy controls, so the mutation in the proband is spontaneous. The patient was finally diagnosed with Carvajal syndrome according to the clinical manifestations, gene detection and auxiliary examination results.@*Conclusion@#The heterozygous missense mutation C.1790C>T (p.Ser597Leu) of the DSP gene may be the pathogenic mutation for the clinical phenotype of the patient.

Desmoglein 4 gene mutation analysis in a pedigree with autosomal recessive hereditary monilethrix / 中华皮肤科杂志

A 3-year-old female proband presented with patchy follicular keratotic papules on the hairless scalp after birth. At about the age of 2 years, sparse hairs of non-uniform thickness began to grow, but they fell out intermittently and were broken easily. Some eyebrows and eyelashes of different lengths fell out or were broken. Physical examination revealed good condition of nutrition, normal height, weight and intelligence, with no obvious abnormalities in other systems. Skin examination showed sparse and broken hairs with follicular keratotic papules on the vertex and occiput. Teeth, nails, toenails and sweat glands were normal. Dermoscopy, optical microscopy and scanning electron microscopy all showed that affected hairs gave a beaded appearance. Gene sequencing showed that the proband carried heterozygous deletions of exons 2-16 in the desmoglein 4 (DSG4) gene, and a heterozygous mutation c.574T>C (p.S192p) (NM-177986) in the DSG4 gene, which were inherited from her father and mother respectively. None of the above mutations in the DSG4 gene were found in 100 healthy controls. According to the gene sequencing results and clinical phenotype, the patient was finally diagnosed with autosomal recessive hereditary monilethrix, and the c.574T>C mutation and heterozygous deletions of exons 2-16 of the DSG4 gene may contribute to autosomal recessive hereditary monilethrix in the child.

Desmoglein 4 gene mutation analysis in a pedigree with autosomal recessive hereditary monilethrix / 中华皮肤科杂志

A 3-year-old female proband presented with patchy follicular keratotic papules on the hairless scalp after birth.At about the age of 2 years,sparse hairs of non-uniform thickness began to grow,but they fell out intermittently and were broken easily.Some eyebrows and eyelashes of different lengths fell out or were broken.Physical examination revealed good condition of nutrition,normal height,weight and intelligence,with no obvious abnormalities in other systems.Skin examination showed sparse and broken hairs with follicular keratotic papules on the vertex and occiput.Teeth,nails,toenails and sweat glands were normal.Dermoscopy,optical microscopy and scanning electron microscopy all showed that affected hairs gave a beaded appearance.Gene sequencing showed that the proband carried heterozygous deletions of exons 2-16 in the desmoglein 4 (DSG4) gene,and a heterozygous mutation c.574T＞C(p.S192p)(NM-177986) in the DSG4 gene,which were inherited from her father and mother respectively.None of theabove mutations in the DSG4 gene were found in 100 healthy controls.According to the gene sequencing results and clinical phenotype,the patient was finally diagnosed with autosomal recessive hereditary monilethrix,and the c.574T ＞ C mutation and heterozygous deletions of exons 2-16 of the DSG4 gene may contribute to autosomal recessive hereditary monilethrix in the child.

Pyoderma gangrenosum, acne, pyogenic arthritis, and suppurative hidradenitis syndrome: a case study / 中华皮肤科杂志

A 22-year-old male patient visited the Department of Dermatology of the First Affiliated I Iospital of Zbengzhou University on October 31,2016 due to dark red papules,nodules,pustules and cysts on the face,neck,back and in the axillary and inguinal regions for 6 years,and multiple dark purple plaques and ulcers on bilateral lower limbs for 1 year.Six years ago,the patient was diagnosed with acne in other hospital,and no treatment was given.One year ago,multiple purple plaques occurred on the bilateral lower limbs,which then ruptured and progressed into ulcers with diameters of 1-12 cm.On May 9,2002,the patient visited the Department of Pediatric Medicine of the First Affiliated Hospital of Zhengzhou University due to the left knee joint swelling and pain for half a year.Laboratory examination showed negative rheumatoid factor,and smear examination of the left knee joint effusions revealed that there were neutrophils and a small amount of lymphocytes and monocytes in the joint effusions,and no abnormal cells were observed.Then,the patient was diagnosed with pyogenic arthritis of the left knee.Physical examination at admission showed poor general condition,walking difficulty,slightly increased blood pressure of 142/92 mmHg (1 mmHg =0.133 kPa),multiple purple plaques on the bilateral lower limbs with central ulcer formation.Histopathological examination of ulcer margin on the lower limbs showed ulceration,intercellular edema and infiltrating neutrophils in the epidermis,and edema,focal erythrocyte extravasation,diffuse infiltration of neutrophils,lymphocytes and histiocytes in the superficial and middle dermis.Clinical manifestations and pathological features confirmed a diagnosis of pyoderma gangrenosum.There were extensive inflammatory papules,pustules,abscesses and cysts on the face,neck,waist and back,and a small amount of dark red nodules on the axillary and inguinal regions,which were consistent with cystic acne and hidradenitis suppurativa.As PSTPIP1 gene sequencing showed,no mutations were found in exon fragments,while compound heterozygous mutations c.36 + 68 G ＞ A,c.137 + 47 G ＞ C and c.562 + 114 C ＞ G her were found in intron fragments.Among 100 healthy controls,45 carried the same mutations.So,these mutation sites were considered to be polymorphic sites,and the pathogenicity of these mutations was still unclear.Finally,the patient was diagnosed with PAPASH syndrome.The patient was treated with methylprednisolone,cefminox,isotretinoin and thalidomide,and the lesions were markedly improved after 2 weeks.Now the patient was still followed up.

A case of blue vitiligo / 中华皮肤科杂志

A 26?year?old male patient presented with facial depigmented patches for 10 years, some of which turned to blue?grey 7 years prior to the presentation. Before the white patches turned blue?gray, the patient developed contact dermatitis due to topical application of self?made drugs. Skin examination showed blue?gray hyperpigmentation on the left upper lip and in the temporal region, with white hairs in the hyperpigmented lesions on the left upper lip. Dermoscopy revealed irregularly shaped, light to dark blue?gray patches on the left upper lip, which were intermingled with white patches in some regions, and white hair stubs were observed in the white patches. Histopathological examination of temporal lesions showed decreased melanocytes in some regions in the epidermis, pigmentation in both basal and suprabasal layers, perivascular infiltration of a small number of chronic inflammatory cells and melanophages in the superficial dermis, and melanophage infiltration around sweat ducts. Finally, the patient was diagnosed with blue vitiligo. He refused to receive any treatments, and follow?up was under way.

Oral and Cutaneous Lichenoid Eruption with Nail Changes Due to Imatinib Treatment in a Chinese Patient with Chronic Myeloid Leukemia

No abstract available.

STS gene in a pedigree with X-linked ichthyosis / 华中科技大学学报（医学）（英德文版）

To investigate the gene mutation in a pedigree with X-linked ichthyosis (XLI) and to explore the relationship between the mutation and its clinical manifestations, genomic DNA of affected members, the normal member of the pedigree and 50 unrelated normal members was extracted with a whole blood genomic DNA extraction kit and the DNA was used as a template for the polymerase chain reaction (PCR)-mediated amplification of exon 1 and exon 10 of the STS gene. hHb6 (human hair basic keratin) gene was used as the internal control. Our results showed that the STS gene was deleted in affected members in the pedigree with X-linked ichthyosis. The normal member of the pedigree and 50 unrelated normal members had no such deletion. The proband and his mother had products in the internal control after PCR amplification. The blank control had no product. It is concluded that deletion of the STS gene existed in this pedigree with X-linked ichthyosis, and it is responsible for the unique skin lesions of X-linked ichthyosis.

The recent study and key technologies of an aided endoscopic surgical robot system / 中国医疗器械杂志

This paper introduces the recent study and development of an aided endoscopic surgical robot system, and discusses its future trends--teleoperative robot system and telesurgery system. In addition, their key technologies are analyzed here in the paper.