Host and clinical aspects in patients with benign migratory glossitis.

OBJECTIVE: Investigate the association of clinical, cytological and genetic characteristics with benign migratory glossitis (BMG). STUDY DESIGN: Sample consisted of 175 patients, 44 with BMG and 131 control patients. Clinical examination and DMFT index were assessed. Cytological evaluation determined cell morphology and morphometry. Genetic evaluation was performed by analysing IL6 polymorphisms by real-time PCR. Univariate and multivariate analyses were performed (p<0.05). RESULTS: There was a higher level of anxiety, DMFT score and a prevalence of fissured tongue in BMG group. A high mean nuclear/cytoplasmic area ratio was observed in patients with BMG. There was predominance of Papanicolaou class II I BMG group. IL6 allele G rs2069843 polymorphism was associated with BMG in the dominant model. In multivariate analysis, DMFT and anxiety scale remained associated with BMG.

HLA alleles in Brazilian patients with fissured tongue.

BACKGROUND: Fissured tongue (FT) is a clinical condition manifested by numerous little furrows on the tongue's surface. Previously, the authors observed an association with HLA-C×06 in psoriasis (PS) and benign migratory glossitis (BMG); however, HLA-C was not surveyed in FT. OBJECTIVE: This study investigated the association between HLA alleles and FT. METHODS: Thirty-three FT bearers were studied, after evaluation of criteria for inclusion. These patients did not present PS, BMG or any other conditions associated with FT. The control group (CG) was composed of 561 individuals with HLA-A, 560 individuals with HLA-B, 168 individuals with HLA-C, 564 individuals with HLA-DRB1 and 390 individuals with HLA-DQB1. Samples from these individuals were processed to extract DNA. The HLA classes I and II were determined using the reverse line blot technique. The frequencies of HLA antigens found in patients were compared with the CG using Fisher's exact test. RESULTS: The comparison of the frequencies of HLA antigens found in the patient groups and in CG revealed no association with any of the alleles studied, except for HLA-A*01, which exhibited a decreased frequency in patient groups. HLA-C*06 was detected in 7.57% of FT patients and 10.42% of the CG (not significant). CONCLUSION: The lack of association of FT with HLA-C*06 reinforces the proposal that this disease does not have a common genetic factor in the triad of BMG, FT and PS.

HLA alleles in Brazilian patients with fissured tongue

BACKGROUND: Fissured tongue (FT) is a clinical condition manifested by numerous little furrows on the tongue's surface. Previously, the authors observed an association with HLA-C×06 in psoriasis (PS) and benign migratory glossitis (BMG); however, HLA-C was not surveyed in FT. OBJECTIVE: This study investigated the association between HLA alleles and FT. METHODS: Thirty-three FT bearers were studied, after evaluation of criteria for inclusion. These patients did not present PS, BMG or any other conditions associated with FT. The control group (CG) was composed of 561 individuals with HLA-A, 560 individuals with HLA-B, 168 individuals with HLA-C, 564 individuals with HLA-DRB1 and 390 individuals with HLA-DQB1. Samples from these individuals were processed to extract DNA. The HLA classes I and II were determined using the reverse line blot technique. The frequencies of HLA antigens found in patients were compared with the CG using Fisher's exact test. RESULTS: The comparison of the frequencies of HLA antigens found in the patient groups and in CG revealed no association with any of the alleles studied, except for HLA-A*01, which exhibited a decreased frequency in patient groups. HLA-C*06 was detected in 7.57% of FT patients and 10.42% of the CG (not significant). CONCLUSION: The lack of association of FT with HLA-C*06 reinforces the proposal that this disease does not have a common genetic factor in the triad of BMG, FT and PS.

Two novel de novo mutations of KRT6A and KRT16 genes in two Chinese pachyonychia congenita pedigrees with fissured tongue or diffuse plantar keratoderma.

BACKGROUND: Mutations in the KRT6A or KRT16 gene cause pachyonychia congenita type 1 (PC-1), while mutations in KRT16 or KRT6C underlie focal palmoplantar keratoderma (FPPK). A new classification system of PC has been adopted based on the mutated gene. PC rarely presents the symptoms of diffuse plantar keratoderma. Mutation in the tail domain of keratins is rarely reported. PC combined with fissured tongue has never been described. OBJECTIVES: To investigate the genotype-phenotype correlations between clinical features and gene mutational sites in two unrelated southern Chinese PC pedigrees (one family presented with specific fissured tongue, the other with diffuse plantar keratoderma). MATERIALS & METHODS: The whole coding regions of the KRT6A/KRT16/KRT17/KRT6B genes were amplified and directly sequenced to detect the mutation. To confirm the effect of the IVS8-2A>C mutation in KRT6A at the mRNA level, total RNA from the plantar lesion of a patient was extracted and reverse-transcribed to cDNA for sequence analysis. RESULTS: Two novel de novo mutations, a splice acceptor site variant IVS8-2A>C (p.S487FfsX72) in KRT6A and a heterozygous substitution c.AA373_374GG (p.N125G) within exon 1 of KRT16, were found separately in the two PC families. CONCLUSION: Genotype-phenotype correlations among PC patients with codon-125 mutation in KRT16 were established, while the phenotypes caused by the IVS8-2A>C mutation in KRT6A need further studies to confirm the rare feature of fissured tongue.

Prevalence of bifid tongue and Ankyloglossia in South Indian population with an emphasis on its embryogenesis / Prevalencia de lengua bífida y anquiloglosia en el Sur de la población India con énfasis en su embriogénesis

Disturbance in the organogenesis of tongue might lead to some malformations like tongue tie, bifid tongue and hairy tongue. Severe degrees of these anomalies may cause speech impairment or periodontal defects. The present study was done on patients of the southern coastal belt of India during the past two years, on gross tongue anomalies. The results of the present study reveal that occurrence of tongue tie is 0.2 percent and bifid tongue is 0.3 percent in the southern coastal population. Since great majority of these oral anomalies have genetic basis the purpose of the present report is to highlight that these anomalies can exist without any familial background and also to suggest that environmental factor may play a role in the etiogenesis of these anomalies.

La alteración en la organogénesis de la lengua puede dar lugar a algunas malformaciones como anquiloglosia, lengua bífida y lengua vellosa. Grados severos de estas anomalías puede provocar un trastorno del habla o defectos periodontales. El presente estudio se realizó, durante los últimos dos años, en pacientes de la franja costera del Sur de la India con anomalías graves en la lengua. Los resultados del estudio revelaron que, en la población costera del sur, la incidencia de anquiloglosia era de 0,2 porciento y de lengua bífida de 0,3 por ciento. Dado que la gran mayoría de estas anomalías orales tienen base genética, el propósito del presente informe fue poner de relieve que estas anomalías pueden existir sin ningún tipo de antecedentes familiares y también sugerir que los factores ambientales podrían jugar un papel en el etiogenesis de estas anomalías.

HLA alleles and fissured tongue.

The aim of this study was to investigate the linkage between HLA and fissured tongue. Sixty- nine individuals with fissured tongue and 125 healthy volunteers were typed for HLA-DRB1*. The results showed increased frequency of HLA-DRB1*08 (P < 0.001), HLA-DRB1*14 (P < 0.01), HLA-DRB1*11 (P < 0.05) and HLA-DRB1*16 (P < 0.05), while HLA-DRB1*03 and HLA-DRB1*07 frequency was decreased (P < 0.05).

[Association of somatic markers of the tongue and impaired hearing]. / Udruzenost somatskih markera jezika i ostedjenog sluha.

Two hundred one pupils from the Belgrade school for children with impaired hearing possess two somatic genetic markers of the tongue: fissured tongue and deep line in the tongue. After compairing these findings with those in healthy population, we found that these markers were three times more frequent in this group. This finding is of great statistical importance. Lingua geografica, the third somatic genetic marker of the tongue, was completely normal. After having carried out numerous detailed analyses of obtained data, we came to the conclusion that the relationship between the two genetic markers of the tongue and impairment of hearing, caused by congenital or early post-natal impairment was genetically various and very important from the medical point of view. In fact, if a person has a fissured tongue or a deep line in the tongue, he/she is at the risk of having his hearing apparatus impaired. This may happen during intrauterine of early post-natal period, and can be caused by biological, chemical or physical factors.

Family study on Melkersson-Rosenthal syndrome. Some hereditary aspects of the disease and review of literature.

The medical records of 73 unrelated patients with either complete or incomplete Melkersson-Rosenthal syndrome attending our department between 1967 and 1985 were analyzed, and 42 of them as well as 171 of their relatives were examined. Lingua plicata was seen in 10, and other features were detected in 6 of the 42 families. The limited frequency of signs characteristic for the syndrome in the relatives examined suggest a multifactorial origin including a genetic basis.

Familial study of fissured tongue.

Clinical and genetic characteristics of histologically defined fissured tongue were examined in a familial study. Fifteen probands with fissured tongue and four probands with geographic tongue were selected from earlier studies. In addition, 12 probands with tongue fissuring, but without changes of papillary structure, were included. The total sample consisted of 31 families; the number of family members examined was 185 (93 men, 92 women), and the mean age of the subjects was 20 yr (range 1-78). Diagnosis of tongue form was emphasized, and this study describes an in vivo method of stereomicroscopy for examining the dorsum of the tongue. According to genetic analysis, fissured tongue with smooth-surfaced papillae was transmitted as a dominant characteristic with incomplete penetrance and was preceded by geographic tongue. The severity of fissured tongue changed with increasing age. Tongue fissuring with normal-appearing filiform papillae was not familial and was not associated with geographic tongue. Fissuring with normal papillary structure should be considered as variations of normal anatomy, whereas fissured tongue and geographic tongue are a clinical and etiological disease entity.

Follicular atrophoderma with scrotal tongue.

Follicular atrophoderma has been associated with a variety of findings. In our patient's family the disease was present in the mother and all of her living children. Scrotal tongue was also found in all but one child. We think that follicular atrophoderma is probably inherited as an autosomal dominant trait.

[Progressive nuclear ophthalmoplegic myopathy with retinitis pigmentosa, scrotal tongue and intellectual deterioration--a nosologically independent syndrome?]. / Progressiruiushchaia iadernaia oftal'moplegicheskaia miopatiia s pigmentnym retinitom, skrotal'nym iazykom i snizheniem intellekta--nozologicheski samostoiatel'nyi sindrom?

This is the second reported description in the available literature of a family with nuclear ophthalmoplegic myopathy, pigment retinitis, scrotal tongue and intellectual deterioration. Nosological independence of the syndrome is discussed.

Geographic tongue in two siblings.

We report two illustrative cases of geographic tongue which occurred in 6- and 4-year-old sisters whose father had fissured tongue. The elder sister had mild atopic dermatitis and nail changes, but there was no family history suggestive of psoriasis. Histologically, the geographic tongue in the elder sister showed the same features as the oral lesions in pustular psoriasis. From a review of the literature we suggest that geographic tongue may be classified into two types, one that commonly occurs in atopics and another that develops as an oral manifestation of pustular psoriasis, although both types show similar histopathological features.

Lingual lesions of generalized pustular psoriasis. Report of five cases and a review of the literature.

Geographic tongue and fissured tongue may be mucosal manifestations of generalized pustular psoriasis. All three disorders have polygenic inheritance patterns and affected patients may share genes. Five patients in three families with geographic tongue, fissured tongue, and generalized pustular psoriasis are described and the lingual lesions of generalized pustular psoriasis are reviewed.

Hereditary proximal spinal and bulbar motor neuron disease of late onset. A report of six cases.

Six cases of a comparatively rare motor neuron disease are described. Essential features of this syndrome include (1) X-linked inheritance; (2) adult onset in the fourth to fifth decades; (3) slow progression; (4) predominant proximal and bulbar muscle involvement; and (5) absence of sensory or pyramidal tract signs. The previously reported finding of gynecomastia was absent, whereas longitudinal midline furrowing of the tongue was present in only one case. Electromyography in five patients revealed neurogenic changes. Muscle biopsies in two patients showed fiber type grouping with type I fiber predominance. The coexistence of this form of motor neuron disease and diabetes mellitus is prominent in family 2. It is important to recognize that these patients have a chronic, slowly progressive illness. The prognosis for longevity is good, although severe disability is inevitable. Management includes reassurance, supportive therapy, genetic counseling, and periodic testing for diabetes.

Scrotal tongue and geographic tongue: polygenic and associated traits.

The familial nature of scrotal and geographic tongue was investigated in parents and siblings of 156 probands having these conditions. The prevalence in parents and siblings was significantly higher than that in the control populations. The prevalence in sibilings from families in which at least one parent was also affected was significantly higher than that in siblings from families in which neither parent was affected. The prevalence of scrotal tongue alone in siblins was similar irrespective of the condition in the proband. The prevalence of geographic tongue alone was highest in siblins of probands having only geographic tongue. A polygenic mode of inheritance with some genes common to both conditions is suggested.