ABSTRACT
Objective To detect mutations of the type Ⅱ human basic hair keratin (hHb) gene in a family of Han nationality with monilethrix.Methods Clinical data were collected from a family of Han nationality with monilethrix.Dermoscopy was performed to observe hairs of the family members,and light microscopy and scanning electron microscopy (SEM) were conducted to investigate the features of lesional hairs.Blood samples were obtained from the proband,other family members and 100 healthy controls,and DNA was extracted from these blood samples.Polymerase chain reaction (PCR) was performed to amplify the exons 1 and 7 of the hHb1,hHb3 and hHb6 genes,and DNA sequencing results were compared with their sequences in the GenBank database.Results The proband was an 8-year-old girl,whose head hairs had become fragile and easy to pull out since 2 months after birth.Skin examination showed diffuse sparsehairs,most of which were 2-cm-long broken hairs with abnormal appearance.Moniliform hairs were scattered all over the head,especially on the occipital region,and follicular keratotic papules were observed on the back of the neck.The proband was diagnosed with monilethrix.There were a total of 15 members in the 3-generation family,and 4 were diagnosed with monilethrix.The hair shafts of the 4 patients all showed typical moniliform structures.After 9-month consecutive treatment with topical minoxidil 2％ solution,the hairs of the proband turned longer and denser.A heterozygous mutation c.1237G＞A (p.E413K) was identified in the exon 7 of the hHb6 gene in the 4 patients,but not in the other family members or 100 healthy controls.Conclusion The E413K mutation of the hHb6 gene was firstly found in the patients in a Chinese Han family with monilethrix,which may be responsible for moniliform hairs.
ABSTRACT
Objective To investigate the clinical features of cutaneous adverse reactions to tyrosine kinase inhibitors.Methods Thirty patients with cutaneous adverse reactions to tyrosine kinase inhibitors were enrolled from the First Affiliated Hospital of Guangzhou Medical University between January 2015 and December 2016,and their laboratory test results,histopathological findings and treatment response data were collected and analyzed retrospectively.Results Of the 30 patients,15 presented with acneiform eruptions,10 with eczematoid eruptions,2 with morbilliform rashes,1 with telangiectasia,1 with hand-foot skin reaction,9 with xerosis,7 with nail changes and 4 with hair changes.A patient with grade 4 acneiform eruptions showed a markedly elevated alanine transaminase (ALT) level (315 U/L).Mild ALT abnormalities (48.5-88.1 U/L) were found in 3 patients with grade 3 acneiform eruptions,1 with grade 2 acneiform eruptions,1 with grade 1 acneiform eruptions and 1 with eczematoid eruptions complicated by fever.Two patients with eczematoid eruptions and 1 with morbilliform rashes showed elevated proportions of peripheral blood eosinophils (0.057-0.303).Pathological changes of the acneiform eruptions included hyperkeratosis and dilation of hair follicles and neutrophilic infiltration.Pathological manifestations of eczematoid eruptions included different degrees of spongiosis,thickened spinous layer,irregular elongation of rete ridges and liquefaction degeneration of basal cells in the epidermis,and perivascular infiltration of lymphocytes and eosinophils in the superficial dermis.Patients with grade 1-3 acneiform eruptions received oral minocycline for 6 weeks,skin lesions gradually regressed,but relapse occurred after the withdrawal.After withdrawal of targeted antineoplastic agents and 2-week treatment with systemic glucocorticoids,skin lesions gradually regressed in patients with grade 4 acneiform eruptions,those with eczematoid eruptions complicated by fever,and those with morbilliform rashes.Skin rashes also resolved in patients with mild morbilliform rashes and those with mild eczematoid eruptions after 2 weeks of treatment with antianaphylactic agents and topical glucocorticoids.Oral antibiotics were effective for the treatment of periungual erythematous swelling or granulomas.Conclusion Tyrosine kinase inhibitor-related cutaneous adverse reactions include a constellation of disorders,and hepatic function can be impaired.