Ichthyosis follicularis, alopecia, and photophobia syndrome: a case report and mutation analysis / 中华皮肤科杂志

A 26-month-old male child was admitted for hair abnormality after birth. There was no hair growth on the scalp of the child after birth, rough skin and scattered rice-grain-sized follicular papules were observed all over the body, and erythema was seen in the perianal region. Fifteen days after birth, the patient was found to be photophobic. Skin examination showed diffusely distributed rice-grain-sized follicular papules all over the body, no growth of hair, eyelashes or eyebrows, and well-circumscribed perianal erythema with scaling at the edges. Genetic testing revealed a c.661T>A mutation in the MBTPS2 gene on the X chromosome of the child, which caused a substitution of phenylalanine by isoleucine at amino acid position 221 (p. Phe221Ile) . A heterozygous mutation at the same locus was identified in the patient′s mother. The patient was diagnosed with ichthyosis follicularis, alopecia, and photophobia syndrome.

Factors associated with the relapse of propranolol-treated infantile hemangioma / 中华皮肤科杂志

Objective To analyze factors associated with the relapse of propranolol-treated infantile hemangioma.Methods The clinical data were collected from 235 children with infantile hemangioma who had discontinued propranolol for 6 months,and retrospectively analyzed.Factors for the relapse of propranolol-treated infantile hemangioma were analyzed by univariate and multivariate unconditional logistic regression analyses.Results Of 235 patients followed for 6 months after drug withdrawal,66 (28.1％) were identified to have recurrence of infantile hemangioma,of whom,15 (22.7％) had severe recurrence.The risk of recurrence was significantly increased in patients taking propranolol at a daily dosage of 1.5 mg/kg compared with those taking propranolol at a daily dosage of 2 mg/kg (OR =3.566,95％ CI:1.306-9.739),in patients aged ＞ 8 weeks at the initial drug treatment compared with those aged ≤ 8 weeks at the initial drug treatment (OR =5.043,95％ CI:1.248-20.376),in patients with the course of medication ≤ 6 months compared with those with the course of medication ＞ 6 months (OR =17.661,95％ CI:4.899-63.665),as well as in patients aged ＜ 1 year at drug withdrawal compared with those aged ≥ 1 year at drug withdrawal (OR =6.089,95％ CI:1.835-20.204).Conclusion There are many risk factors associated with the relapse of propranolol-treated infantile hemangioma,so some measures aimed at these risk factors should be taken to reduce the recurrence rate.

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.

Analyses of essential trace elements in 150 maintenance hemodialysis patients' blood / 中华全科医师杂志

Atomic absorption spectrometry was employed to determine the levels of 7 essential trace elements in the whole blood of 150 mainteinance hemodialysis (MHD) patients.And comparisons were made with the normal group of 200 participants in routine medical examination at the same time at our hospital.And among 7 indices,as compared with the control group,the blood levels of zinc,chromium,cobalt and manganese were significantly lower (P ＜ 0.05) while those of selenium and copper higher (P ＜ 0.05).MHD patients lacked essential trace elements to a varying extent.A clinician should pay attention to complementing essential trace elements to improve the patient's quality of life.

Efficacy and safety of propranolol in treating infantile hemangiomas / 中华皮肤科杂志

[Objective] To evaluate the clinical efficacy and safety of propranolol in treating infantile hemangiomas.[Methods] Ninety children with hemangioma collected from July 2010 to November 2011 were recruited in this study.Oral propranolol was given at a dose of 1.5-2.0 mg/kg per day,and the dose was adjusted according to the growth of body weight.Patients were revisited every month for the observation of appearance of hemangioma.The following parameters,including blood glucose,alanine transarninase,aspartate aminotransferase,urea nitrogen,creatinine,creatine kinase,heart rate,blood pressure,electrocardiogram and ultrasound image of hemangioma,were monitored before and after the administration of propranolol.[Results] A rapid halt in haemangioma proliferation was seen in 91.1％ (82/91) of the patients within 24-48 hours after the administration of popranolol.After 1-10 months of treatment,haemangioma shrunk by 0-25％ with a lightening of lesional color in 8.0％ (7/88) of the patients,by 26％-50％ with an obvious lightening of lesional color in 39.8％ (35/88),by 51％-75％ with a marked lightening of lesional color in 26.1％ (23/88),and 26.1％ (23/88)of the patients achieved a shrinkage of more than 75％ or fading of lesional color.The 7-8 months of treatment leaded to the best outcome,followed by 5-6 months,3-4 months,and 1-2 months,of treatrnent.No rebound was observed in patients who stopped the treatment at 10 months to l year and 4 months of age.Usually during early stage of the therapy,some of the patients suffered from reduced diastolic blood pressure,sleep disorder,loose stools,hypoglycemia,cold extremities,bronchial hyperreactivity,elevated alanine transaminase/aspartate aminotransferase or creatine kinase isoenzyme,most of which were tolerable and relieved with or without symptomatic treatment.[Conclusion]s Propranolol can suppress the growth and accelerate the regression of hemangiomas in proliferative phase,and also can promote the subsidence of hemangiomas in regressive phase.The side effects of propranolol are usually mild,but still need close monitoring.