Differential Diagnosis of Two Chinese Families with Dyschromatoses by Targeted Gene Sequencing / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>The dyschromatoses are a group of disorders characterized by simultaneous hyperpigmented macules together with hypopigmented macules. Dyschromatosis universalis hereditaria (DUH) and dyschromatosis symmetrica hereditaria are two major types. While clinical and histological presentations are similar in these two diseases, genetic diagnosis is critical in the differential diagnosis of these entities.</p><p><b>METHODS</b>Three patients initially diagnosed with DUH were included. The gene test was carried out by targeted gene sequencing. All mutations detected on ADAR1 and ABCB6 genes were analyzed according to the frequency in control database, the mutation types, and the published evidence to determine the pathogenicity.</p><p><b>RESULTS</b>Family pedigree and clinical presentations were reported in 3 patients from two Chinese families. All patients have prominent cutaneous dyschromatoses involving the whole body without systemic complications. Different pathogenic genes in these patients with similar phenotype were identified: One novel mutation on ADAR1 (c. 1325C>G) and one recurrent mutation in ABCB6 (c. 1270T>C), which successfully distinguished two diseases with the similar phenotype.</p><p><b>CONCLUSION</b>Targeted gene sequencing is an effective tool for genetic diagnosis in pigmentary skin diseases.</p>

Identification of a novel mutation in solute carrier family 29, member 3 in a Chinese patient with H syndrome / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>H syndrome (OMIM 612391) is a recently described autosomal recessive genodermatosis characterized by indurated hyperpigmented and hypertrichotic skin, as well as other systemic manifestations. Most of the cases occurred in the Middle East areas or nearby countries such as Spain or India. The syndrome is caused by mutations in solute carrier family 29, member 3 (SLC29A3), the gene encoding equilibrative nucleoside transporter 3. The aim of this study was to identify pathogenic SLC29A3 mutations in a Chinese patient clinically diagnosed with H syndrome.</p><p><b>METHODS</b>Peripheral blood samples were collected from the patient and his parents. Genomic DNA was isolated by the standard method. All six SLC29A3 exons and their flanking intronic sequences were polymerase chain reaction (PCR)-amplified and the PCR products were subjected to direct sequencing.</p><p><b>RESULTS</b>The patient, an 18-year-old man born to a nonconsanguineous Chinese couple, had more extensive cutaneous lesions, involving both buttocks and knee. In his genomic DNA, we identified a novel homozygous insertion-deletion, c. 1269_1270delinsA, in SLC29A3. Both of his parents were carriers of the mutation.</p><p><b>CONCLUSIONS</b>We have identified a pathogenic mutation in a Chinese patient with H syndrome.</p>

A new classification of nevus of Ota / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>The nevus of Ota, is a common benign pigmentary dermatosis, mainly involve innervation area of first and second branch of trigeminal nerve. The classification of nevus of Ota was proposed by Tanino, based on 26 cases of nevus of Ota from 1937 to 1940. Studies about its classification are rarely seen in last 70 years, while it is still practical today.</p><p><b>METHODS</b>Based on the clinical photographs, 1079 consecutive patients with nevus of Ota were verified and reclassified according to the innervation areas of the trigeminal nerve branches.</p><p><b>RESULTS</b>In these 1079 cases, 866 patients were in line with Tanino's classification (80.26%), and 213 patients were not (19.74%). We put forward a new clinical classification (Peking Union Medical College Hospital classification, PUMCH classification) of nevus of Ota based on the innervation area of the trigeminal nerve branches, composed of 5 types and 14 subtypes. The 5 types were as follows: Type I - pigmentation maculeses involving the innervation area of one of the three trigeminal nerve branches, of which there were 424 cases (39.3%), comprising 6 subtypes; Type II - pigmentation macules involving the innervation area of two branches of the three trigeminal nerve branches, of which there were 221 cases (20.48%), comprising 4 subtypes; Type III - pigmentation macules involving the innervation area of all three trigeminal nerve branches, of which there were 361 cases (33.45%), comprising 2 subtypes; Type IV - bilateral type, in which the pigmentation macules involves the bilateral cheek, of which there were 63 cases (5.84%), comprising 2 subtypes; and Type V - complications occurred in the patient, of which there were 10 cases (0.93%).</p><p><b>CONCLUSION</b>The new classification of nevus of Ota is based on the innervation area of the trigeminal nerve branches, and it covers all types of Tanino's classifications; on that basis, some new types and subtypes are brought in and cover almost every clinical condition.</p>

Lupus erythematosus panniculitis: clinical and histopathological analysis of 22 cases / 中国医学科学院学报

<p><b>OBJECTIVE</b>To explore the clinical and histopathological manifestations, therapy and prognosis of lupus erythematosus panniculitis (LEP).</p><p><b>METHOD</b>We retrospectively reviewed the clinical data and histopathological features of 22 cases of LEP diagnosed at Peking Union Medical College Hospital from January 2008 to February 2010.</p><p><b>RESULTS</b>The lesions appeared as atrophy, erythema, subcutaneous nodules, infiltrated erythema, and ulceration over the scalp, face, upper limbs, and buttock. Histopathological features were lobular panniculitis in the subcutaneous fat; sometimes septal panniculitis could be seen. Hydroxychloroquine sulfate and corticosteroid were effective treatment; most patients responded well to the treatment, while a few experienced recurrence when the treatment tapped or discontinued.</p><p><b>CONCLUSIONS</b>LEP is a rare cutaneous variant of lupus erythematosus. The diagnosis of LEP is mainly based on clinical findings and pathological features. Hydroxychloroquine and low- and middle-dose corticosteroid are effective for the treatment of LEP.</p>

Cutaneous Rosai-Dorfman disease presenting as a granulomatous rosacea-like rashs / 中华医学杂志(英文版)

A case of cutaneous Rosai-Dorfman disease (CRDD) presenting as a granulomatous rosacea-like rashs was reported. A 45-year-old Chinese woman presented with a 1-month history of a widespread nonpruiginous papulonodular eruption. The rash had begun on her face and rapidly progressed to involve the neck and extremities. She was otherwise healthy, with no history of fever, malaise, or weight loss. Physical examination revealed multiple symmetrically distributed discrete and coalescing red plaques, papules and nodules scattered over the face, neck and extremities. No appreciable lymphadenopathy or hepatosplenomegaly was noted. There was no mucosal involvement. The biopsy specimen obtained from the face demonstrated the epidermis was normal, while the superficial dermis contained sheets of histiocytes with abundant, focally foamy cytoplasm. The histiocytes were surrounded by a patchy lymphocytic and plasma cell infiltrate. There was no significant histiocytic atypia. Some of these histiocytes engulfed, without destroying, lymphocytes and neutrophils (emperipolesis). Immunohistochemical staining revealed that the histiocytes were strongly positive for S100 protein, weakly positive for CD68, and negative for CD1a. A diagnosis of CRDD was made. Oral prednisone therapy was initiated at a dosage of 30 mg/d for 3 weeks and then tapered over the ensuing 2 weeks. After 5 weeks of treatment, the lesions had markedly improved.

Efficacy and safety of 308 nm excimer laser for vitiligo / 中国医学科学院学报

<p><b>OBJECTIVE</b>To assess the efficacy and safety of the 308 nm excimer laser for the treatment of vitiligo.</p><p><b>METHODS</b>We treated 170 patients with stable vitiligo by using the 308 nm excimer laser. The lesions of vitiligo were treated one to two times per week for 10-30 times. Efficacies were evaluated every 7 days and 3 days after the treatments were completed. Patients were followed up for two months.</p><p><b>RESULTS</b>The rates of "remarkably improved" and "cured" were 67.97% and 32.03% in faces, 54.55% and 27.27% in necks, 63.26% and 26.53% in trunks, 38.84% and 15.70% in limbs, and 0 and 0 in hands and feet. The areas of faces had a better response than those of necks, trunks, or limbs (P < 0.01), and the areas of trunks or limbs had better response than that of hands and feet (P < 0.01).</p><p><b>CONCLUSION</b>The 308 nm excimer laser is safe and effective in treating stable vitiligo and the efficacy varies in different lesion sites.</p>

Clinical efficacy of Q-switched Alexandrite laser for pigmentary skin diseases in 4656 patients / 中国医学科学院学报

<p><b>OBJECTIVE</b>To evaluate the clinical efficacy and safety of Q-switched Alexandrite laser in the treatment of pigmentary skin, diseases ( PSDs).</p><p><b>METHODS</b>Totally 4 656 patients with PSDs were treated with Q-switched Alexandrite laser. These PDSs included nevus of Ota, seborrheic keratosis, tattoo, naevus fusco-caeruleus zygomaticus, cafe-au-lait-spots, lentigo, naevus of Ito, and spilus naevus. The outcomes and adverse events after treatment were oberserved.</p><p><b>RESULTS</b>The response rate was 92.31% and the cure rate was 55.39% for nevus of Ota after six times of treatment, and the cure rate was 100% after nine times of treatment. The response rate was 100% for freckles, seborrheic keratosis, and naevus fuscocaeruleus zygomaticus after four times of treatment. The response rate was more than 77.18% and the cure rate was more than 50% for tattoos after three times of treatment, including amateur tattoo, artificial eyebrow, eyelid lines, and traumatic tattoo. However, after four times of treatment, the response rate and the cure rate were only 50. 00% and 21.43% for cafe-au-lait spots, and 50.00% and 25.00% for spilus naevus, respectively. The response rate was 35.29% for lentigo and 25.00% for naevus of Ito/ spilus naevus after four times of treatment.</p><p><b>CONCLUSION</b>Q-switched Alexandrite laser is effective in the treatment of nevus of Ota, seborrheic keratosis, tattoo, and naevus fusco-caeruleus zygomaticus, but has limited efficacy for cafe-au-lait-spots, lentigo, naevus of Ito, and spilus naevus.</p>

Flashlamp-pumped pulsed dye laser (585 nm) in the treatment of port-wine stains--a retrospective study of 2317 Chinese patients / 中国医学科学院学报

<p><b>OBJECTIVE</b>To evaluate the efficacy and safety of 585 nm flashlamp-pumped pulsed dye lasers (PDL) in the treatment of port-wine stains (PWS).</p><p><b>METHODS</b>A retrospective review was performed in 2 317 patients with PWS who visited the Dermatology Laser Centre of PUMC Hospital and accepted treatment with 585 nm PDL. The correlation between the treatment efficacy and the treatment sessions, lesion types, and usage of other therapies were analyzed. The adverse effects were also observed.</p><p><b>RESULTS</b>All the 2 317 patients with PWS received 1-13 consecutive treatments with PDL at 2-3-month intervals. The median number of treatment was 4.93 and the median energy density was 8.29 J/cm2. The response rate after 8 treatments sessions were 84%. The response rate in patients whose lesions are characterized as purple plaques with proliferation and treated with isotope, CO2, cryotherapy, and other treatments was significantly lower than the total response rate (P < 0.05). Superficial scar, hyperpigmentation, and hypopigmentation were found in 5.2%, 2.5%, and 4.0% of these patients, respectively.</p><p><b>CONCLUSION</b>585 nm PDL is effective and safe in treating PWS.</p>

Effectiveness and safety of long-pulsed Alexandrite laser for hair removal in 1702 patients / 中国医学科学院学报

<p><b>OBJECTIVE</b>To evaluate the effectiveness and safety of long-pulsed Alexandrite laser for hair removal.</p><p><b>METHODS</b>Hair removal was performed in 1702 hirsute patients with long-pulsed Alexandrite laser. Among them 1603 patients received two or more operations.</p><p><b>RESULTS</b>In patients who received 2, 3, 4, 5, and > or =6 operations, the effectiveness rates were 9.79%, 18.33%, 29.10%, 37.64%, and 82.68%, respectively. The number of operation correlated with the effectiveness, and > or =6 operations resulted in superior outcomes. Pigmentation occurred in 0.94% of the patients (16/1702).</p><p><b>CONCLUSION</b>The long-pulsed Alexandrite laser system is effective and safe in removing hair.</p>

Mechanism of alopecia in patients with paraneoplastic pemphigus / 中国医学科学院学报

<p><b>OBJECTIVE</b>To investigate the relationship between the levels of antidesmoglein (DSG) 1, 3 antibodies in the sera of patients with paraneoplastic pemphigus (PNP) and alopecia.</p><p><b>METHODS</b>Sera from PNP patients, bullous pemphigoid patients, and normal healthy subjects were collected and 2 tissue samples from 2 healthy scalps were resected. Anti-DSG 1, 3 antibodies in the sera of PNP patients were detected by enzyme-linked immunosorbent assay (ELISA). Indirect immunofluorescent assay was used to detect whether the antibodies in the sera of PNP patients binds with the follicular epithelium of normal healthy scalp.</p><p><b>RESULTS</b>Anti-DSG3 autoantibody was strongly positive and anti-DSG1 weakly positive in one patient, while both two antibodies were negative in the other patient. Their sera could bind to keratinocytes and follicular epithelium in human scalp. Immunofluorescent signals were found on the intercellular epidermal cell surface and outer root sheath of the follicular epithelium. However, the immunofluorescent signals in the section incubating with serum of bullous pemphigoid were only found on basal membrane zone. No signals were found in the section incubating with normal healthy serum.</p><p><b>CONCLUSION</b>Alopecia in PNP patients are correlated with the anti-DSG3.</p>

Construction and immunogenicity of human papillomavirus type 6b L1 recombinant plasmid / 中国医学科学杂志(英文版)

<p><b>OBJECTIVE</b>To construct a DNA vaccine as a prophylactic model to prevent condyloma acuminatum and detect its immunogenicity in mice.</p><p><b>METHODS</b>The major capsid protein (L1) gene of human papillomavirus (HPV) 6b was inserted into an eukaryotic expression plasmid (pcDNA3.1). The recombinant plasmid was transfected into COS-7 cells. Western blot were performed to detect whether L1 protein can be expressed in eukaryotic cells. Eighteen female BALB/c mice were tested for immunogenicity study.</p><p><b>RESULTS</b>The recombinant plasmid (pcDNA3.1-HPV6bL1) was verified as HPV6b L1 gene by sequencing. Western blot showed specific strip. Anti-L1 protein antibodies could be detected in the mice's sera inoculated with pcDNA3.1-HPV6bL1. Similarly, IL-4, IL-2, and IFN-gamma were increased in the same mice.</p><p><b>CONCLUSION</b>HPV6b L1 recombinant plasmid was constructed successfully which had immunogenicity for BALB/c mice. It provided experimental evidence for the research of DNA vaccine of condyloma acuminata.</p>

Baboon syndrome induced by mercury:a case report / 中华皮肤科杂志

A case of mercury-induced Baboon syndrome is reported.A 31-year-old female presented with a 2-3 day history of pruritic symmetric erythematous papules on both axillas,popliteal fossa,buttocks and groins.The patient was exposed to a broken mercury thermometer two days before the onset of the eruption.Patch testing showed that the patient was sensitive to ammoniated mercury,mercury,mercuric chloride and mercurochrome.The mercury levels in serum and full blood reached the up limit of normal value three days after the onset,and gradually decreased over time.The patient was diagnosed with Baboon syn- drome caused by mercury according to the clinical manifestation and results from laboratory studies.

A clinical analysis of glucagonoma syndrome (four cases reported) / 中国医学科学院学报

<p><b>OBJECTIVE</b>To study the clinical features, diagnosis, and treatment of glucagonoma syndrome (GS) for providing clues for the recognition of this disorder in clinical practice.</p><p><b>METHOD</b>The clinical and laboratory findings of four confirmed patients with GS were analyzed retrospectively.</p><p><b>RESULTS</b>All four patients had typical clinical manifestations of necrolytic migratory erythema (NME), elevated glucagon level in serum and hepatic metastasis. The skin rashes disappeared gradually and serum glucagon level decreased after operation and somatostatin treatment.</p><p><b>CONCLUSIONS</b>NME is the most specific clinical finding of GS. Biopsy of the lesions, glucagon level in serum and various radiological examinations should be done in order to confirm the diagnosis. Surgical resection, chemotherapy, and somatostatin are the main therapies of GS.</p>