Curry-Jones syndrome: the first case reported in China / 中华皮肤科杂志

A 3-year-6-month-old boy presented with multiple asymptomatic banded white macules at birth, which expanded in proportion to his body, and deformity of his right thumb with slight dyskinesia. The patient showed difficulty in communication and concentration compared with children of the same age. The family history was unremarkable. The child had clear consciousness, passable spirits, and poor language ability. Physical examination revealed a special face and slight macrodactyly of the right thumb joints, and the heart, lung, and abdominal examination was otherwise normal. Skin examination showed multiple banded or confluent irregular white macules of varying sizes and slightly elevated plaques distributed along the Blaschko′s lines on the right chest, the flexor aspect of the right upper limb, the median line of the lower abdomen, and the right lower limbs, and banded brown macules on the palmar side of the right hand and radial aspect of the right thumb. Histopathological findings of the while macule on the lower limb were consistent with basaloid follicular hamartoma. Cranial magnetic resonance imaging revealed agenesis of the corpus callosum. Whole-exome sequencing of the lesional tissue showed a mutation c.1234C>T (p.L412F) in the SMO gene, which was not found in his parents. A diagnosis of Curry-Jones syndrome was made based on the skin lesions, and pathological and genetic findings. The mutation c.1234C>T (p.L412F) in the SMO gene may contribute to the disease. The patient continued functional exercises to improve the mobility of his right thumb, and underwent a close follow-up.

Mutation analysis of the COL7A1 gene in 4 cases of recessive dystrophic epidermolysis bullosa / 中华皮肤科杂志

Objective:To analyze gene mutations in and clinical phenotypes of 4 children with recessive dystrophic epidermolysis bullosa (RDEB) .Methods:Clinical data were collected from 4 children with RDEB, and DNA was extracted from peripheral blood samples of the children and their parents. A multi-gene panel targeting congenital epidermolysis bullosa was used for high-throughput sequencing. After identification of causative gene mutations, Sanger sequencing was performed to bidirectionally verify the mutations in the patients and their parents.Results:Genetic testing showed 8 compound heterozygous mutations in the COL7A1 gene in the 4 cases. Case 1 was diagnosed with moderate generalized RDEB, and inherited a paternal mutation c.7828C>T and a maternal mutation c.448G> A; case 2 was also diagnosed with moderate generalized RDEB, and inherited a paternal mutation c.3625_3635del and a maternal mutation c.2726_2728del; case 3 was diagnosed with localized RDEB, carrying a paternal mutation c.682+1G>A and an allelic mutation c.5532+1G>A, but the mutation c.5532+1G>A was not identified in the DNA extracted from the parental peripheral blood samples; case 4 was diagnosed with severe generalized RDEB, and inherited a paternal mutation c.5196delC and a maternal mutation c.500_501insAGGG. Among these mutations, c.2726_2728del and c.5196delC had not been reported previously.Conclusions:All the 4 children with RDEB carried compound heterozygous mutations in the COL7A1 gene, which may be the cause of RDEB. The phenotypes of biallelic frameshift mutation carriers appearred more severe than those of carriers of compound heterozygous mutations composed of biallelic splice site, missense and nonsense, frameshift and amino acid deletion or insertion mutations.

Clinical analysis of 14 children with cerebriform sebaceous nevus / 中华皮肤科杂志

Objective:To investigate clinical manifestations and histopathological features of and surgical timing for cerebriform sebaceous nevus.Methods:Clinical data were collected from 14 children with cerebriform sebaceous nevus in Beijing Children′s Hospital from June 2014 to December 2019, and clinical manifestations, histopathological features and surgical timing were analyzed retrospectively.Results:Of the 14 children, 10 were males and 4 were females. They presented with skin lesions at birth, which were solitary and located on the head and face. These skin lesions gave a cerebriform appearance, with an average diameter of 4.79 cm. Systemic examination showed no abnormality in any children. Histopathological examination showed obvious papillomatous epidermal hyperplasia, large number of mature sebaceous glands and immature hair follicles. The 14 children underwent surgeries at an average age of 1.94 years. No recurrence was observed during the follow-up of 6 months to 6 years after surgery.Conclusion:Cerebriform sebaceous nevus is characterized by a unique cerebriform appearance, mostly occurs on the head and face, and is liable to attract attention, which usually leads to an earlier surgical selection.

Clinical analysis of 11 children with primary osteoma cutis / 中华皮肤科杂志

Objective To investigate clinical manifestations,pathological features and outcomes of primary osteoma cutis in children.Methods Eleven children with confirmed primary osteoma cutis diagnosed in Department of Dermatology,Beijing Children's Hospital between 2011 and 2018 were included into this study.The clinical manifestations,histopathological features,and outcomes were analyzed retrospectively.Results Among the 11 patients,7 were males and 4 were females.Primary osteoma cutis occurred within 22 months after birth in all the children,the median age of onset was 1 month,and the disease occurred during the first 6 months of life in 10 children.The skin lesions were characterized by skincolored or reddish indurated papules,plaques or nodules of varying size with slight epidermal atrophy.Three patients had local skin lesions,and 8 had multiple skin lesions.Serum calcium and parathyroid hormone levels were within normal limits in all the children,and no developmental deformity was observed at birth in any of the children.Histopathological examination revealed the formation of mature lamellar bone in the dermis in all the cases,which involved the subcutaneous adipose tissue in 5 cases.The skin lesions became stable 8-18 months after the occurrence in 10 patients,which was consistent with primary plaquelike osteoma cutis.Only 1 patient underwent a slowly progressive course,and the skin lesions involved subcutaneous deep tissues,leading to dyskinesia,which was consistent with progressive osseous heteroplasia.Conclusions Primary osteoma cutis in children mostly occurs in infancy,whose clinical manifestations are atrophic,indurated plaques or nodules,and its main pathological feature is the formation of mature lamellar bone.Long-term follow-up is needed,and attention should be paid to the occurrence of progressive osseous heteroplasia.

Clinical and pathological features of 16 cases of childhood bullous pilomatricoma / 中华皮肤科杂志

Objective To analyze the clinical and pathological features of childhood bullous pilomatricoma.Methods The clinical and pathological features were analyzed in 16 patients with bullous pilomatricoma,who visited Department of Dermatology of Beijing Children's Hospital from 2013 to 2017.Results Among the 16 patients,5 were males,and 11 were females.Their age of onset ranged from 4 months to 11 years,and the median age of onset was 8.5 years.Their course of disease ranged from 2 months to 4 years,and the average course of disease was 10 months.The tumors were found predominantly on the upper limbs (10 cases,including 7 on the upper arm,2 on the shoulder and 1 on the forearm),followed by the face (4 cases) and the neck (2 cases).These tumors manifested as limited pushable red lumps with blister-like appearance,and telangiectasia was observed on the surface of some lesions.The diameters of the lumps ranged from 0.5 cm to 3 cm,and hard nodules could be detected in the blisters by palpation.Under dermoscopy,uniform red background was observed in 16 cases,unstructured white area in 13,unstructured blue-grey area in 4,and liner or irregular branched vessels.Two or more dermoscopic features were observed in 15 patients.All the skin lesions were resected by surgery,and no recurrence was observed during the follow-up of 1-5 years.Histopathological examination showed that the tumors were located in the middle to deep dennis,and mainly consisted of basaloid cells and shadow cells,as well as transitional cells between the above two kinds of cells.Varying degrees of infiltration of inflammatory cells and hyperplasia and calcification of the fibrous connective tissue were observed in the tumor interstitium,with multinucleated giant cells in some areas.There were varying degrees of infiltration of inflammatory ceils,lymphangiectasis,reduction or absence of elastic fibers in the dennis between the epidermis and tumors.Conclusions Childhood bullous pilomatricoma mostly occurs on the upper limbs,face and neck.Histopathologically,the tumor consists of basaloid cells and shadow cells with lymphangiectasis and reduction of elastic fibers in the dermis.The main dermoscopic features are red background and unstructured white areas.Its prognosis is good after surgical excision.

Lupus erythematosus profundus of the scalp in five children / 中华皮肤科杂志

Objective To investigate clinical and pathological features of lupus erythematosus profundus (LEP)of the scalp in children.Methods A retrospective study was carried out on 5 children with LEP.The clinical and histopathological features,treatment and prognosis of LEP were analyzed.Results The 5 children with LEP included 2 boys and 3 girls with a median age at onset of 5 months (range,2-38 months) and a median clinical course of 15 months (range,4-72 months).Clinically,the patients presented with arc-shaped or circular purple atrophic plaques on the scalp complicated by alopecia.The occipitalia and tempora were the most commonly involved sites.Antinuclear antibodies (ANA) and extractable nuclear antigens (ENAs) were negative in all the patients.Main histopathological changes were hyaline degeneration of the fat,mucin deposition and local aggregation of lymphocytes in fat lobules.Of the 5 patients,2 were treated with oral prednisone (1.5-2 mg/kg/day),1 with oral hydroxychloroquine (5 mg/kg/day),1 with oral prednisone (1.5 mg/kg/day) combined with hydroxychloroquine (5 mg/kg/day),and another 1 with topical halometasone cream and 0.03％ tacrolimus ointment.Lesions were remissed after 2-3 months of treatment,and subsided with growth of new hairs after 6 months.No recurrence was observed during a 1.5-year follow-up.Conclusion Prednisone and hydroxychloroquine are markedly effective for LEP,and pediatric patients with LEP may be treated by topical highpotency glucocorticoids and calcineurin inhibitors.

Analysis of tuberous sclerosis initially manifested as hypomelanotic macules in 12 infants / 中华皮肤科杂志

Objective To investigate clinical characteristics of tuberous sclerosis(TSC)without nervous system abnormalities in infants. Methods Clinical manifestations of 12 infants with TSC were analyzed. Reflectance confocal microscopy (RCM)was performed in 5 of the 12 infants. Two patients underwent histopathological examination and electron microscopic examination. Results The age at first clinic visit for TSC ranged from 2 to 18 months (median, 8.6 months)among these patients. Before occurrence of nervous symptom, TSC mainly manifested as hypomelanotic macules, nodules in the subependymal layer or walls of lateral ventricles of the brain, cardiac rhabdomyoma and multiple renal cysts. RCM revealed intact dermal papillary rings with low reflectivity and obscure boundaries in 5 infants. Histopathological examination showed a local decrease in melanocytes and pigment granules in basal cells. Electron microscopic examination showed a normal number of melanin granules in the cytoplasm of melanocytes in the basal layer. Conclusions Before appearance of nervous system abnormalities, TSC mainly manifests as hypomelanotic macules in infants, and is easily confused with vitiligo in clinic. RCM examination may serve as a useful method to distinguish infant TSC from hypopigmented diseases.

Primary cutaneous γδ-T cell lymphoma with hemophagocytic syndrome in a child / 中华皮肤科杂志

A 13-year-old girl presented with multiple recurrent cutaneous plaques for more than six months,which had been aggravated with intermittent fever for five months.No obvious systemic abnormality was found.Dermatological examination revealed multiple,non-ulcerative,painless,infiltrative,indurated,poorly marginated,purple subcutaneous plaques measuring 3-1 1 cm in diameter with slight squamation in bilateral buttocks and lower limbs.Laboratory investigations showed bicytopenia with the white blood cell count being (0.03-3.7) × 109/L and red blood cell count being (2.8-4.4) × 1012/L,a normal platelet count,hypofibrinogenemia (1.79 g/L) and low proportion of natural killer cells (4.6％).Bone marrow smear showed active proliferation of cells,decreased proportion of granulocytes,presence of a few indefinitely classified cells,and phagocytosis.Reticulocytes were easily seen in the bone marrow smear.Pathologically,no obvious abnormality was observed in the epidermis or dermis,while the subcutaneous adipose tissue,especially fat lobules and some interlobular septa,was extensively infiltrated by large-to medium-sized lymphoid cells with pleomorphic and twisted nuclei as well as a small amount of cytoplasm; necrosis and phagocytosis of nuclear debris and lymphocytes were visible.The atypical lymphoid cells stained positive for CD3,T-cell intracellular antigen-1,granzyme B and TCRγδ with partial loss of CD5 and CD7,but negative for CD56,CD4,CD8 and TCRαβ.No Epstein-Barr virus-encoded RNA (EBER) was detected by in situ hybridization.Based on these findings,a diagnosis of primary cutaneous γδ-T cell lymphoma with hemophagocytic syndrome was made.

Clinicopathological analysis of cutaneous natural killer/T cell lymphoma: 36 case report / 中华皮肤科杂志

ObjectiveTo investigate the clinicopathological features and prognosis of natural killer (NK)/T cell lymphoma and to analyze its relationship with Epstein-barr virus(EBV). MethodsTotally, 36 cases of cutaneous NK/T cell lymphoma were collected from 2000 to 2010 at the Department of Pathology, Peking University Health Science Center, and classified into primary and secondary groups according to whether there is evidence of extracutaneous involvement within 6 months after diagnosis. Clinicopathological features were analyzed and Epstein-barr virus (EBV) was detected. ResultsOf these 36 cases, 13 (36.1％) were classified as primary cutaneous NK/T cell lymphoma, 20 (55.6％) as secondary, and 3 (8.3％) remained unclassified because of the lack of clinical data. Males were more likely to develop both primary and secondary cutaneous NK/T cell lymphoma than females, but there was no striking difference in sex ratio between the patients with primary and secondary lymphoma (P ＞ 0.05 ). Compared with the patients with primary cutaneous NK/T cell lymphoma, those with secondary cutaneous NK/T cell lymphoma showed a younger median age at onset(43.5 vs. 54 years, P ＜ 0.05), higher prevalence of B symptoms(including fever, night sweat, body weight loss) and multiple skin lesions (P ＜ 0.05 and 0.01, respectively). EBV was positive in 92.3％ (12/13) of the primary lymphoma cases and 85％(17/20) of the secondary lymphoma cases. Moreover, the median survival was 8 months in all the cutaneous NK/T cell lymphoma cases, and was significantly shorter in secondary cases than in the primary cases(6 vs. 18 months, x2 = 6.074, P ＜ 0.05). ConclusionsCutaneous NK/T cell lymphoma is an EBV-associated, clinica]ly aggressive disease entity. Patients with primary cutaneous NI/T cell lymphoma seem to have an older age at onset and a better prognosis as compared with those with secondary cutaneous NK/T cell lymphoma.

Clinicopathological observation of bone marrow involvement of systemic anaplastic large-cell lymphoma / 白血病·淋巴瘤

Objective To investigate the clinicopathological features, immunophenotyping and clinical biological behavior of bone marrow (BM) involvement of systemic anaplastic large-cell lymphoma (S-ALCL).Methods 34 S-ALCL including 24 ALK(+) and 10 ALK(-) cases available with the formalin-fixed, paraffin embedded (FFPE) tissue blocks of BM biopsy (n=19) or BM smear sections (n=15) were included in this study.BM samples were sent to both morphologic evaluation using H&E (Hematoxylin & Eosin)-stained sections and immunophenotypic detection by immunohistochemistry (IHC). EBV status was determined by visualization of EBERs in tumor cells using in situ hybridization (ISH). Results BM involvement was seen in 17.6 % (6/34)S-ALCL patients which were confirmed by BM biopsy. No significant difference in the incidence of BM involvement was observed between ALK(+)[16.7 % (4/24)] and ALK(-) [20.0 % (2/10) S-ALCL (P =0.3555).Age and gender were not associated with the presence or the absence of BM involvement by S-ALCL (P= 0.8089and 0.3085), tumor cells of patients with BM involvement were interstitial distribution. S-ALCL patients with BM involvement have a poor prognosis as compared to those without BM involvement (P =0.0407). Conclusion BM involvement was not frequently seen in S-ALCL. The occurrence of BM involvement by S-ALCL was not associated with age, gender or the expression of ALK protein. BM involvement is an adverse prognostic factor in S-ALCL, BM biopsy is useful to predict the prognosis of S-ALCL.