1/13. Salivary gland aplasia with cleft lip and palate: a case report and review of the literature.We report the case of a patient with lifelong symptoms of xerostomia and a repaired bilateral cleft lip and palate. The clinical evaluation demonstrated aplasia of the major salivary glands. A review of the literature pertaining to salivary gland aplasia is presented, along with a summary of the data regarding patient gender, defect sites, hereditary background, and combined manifestations. The diagnostic methods, possible pathogenesis, and management are also discussed.- - - - - - - - - - ranking = 1keywords = gland (Clic here for more details about this article) |
2/13. Increased tear evaporation in a patient with ectrodactyly-ectodermal dysplasia-clefting syndrome.PURPOSE: To describe the tear function and ocular surface disorders in a patient with ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome. methods: Routine ophthalmic examinations were performed, including slit-lamp biomicroscopy, anterior segment photography including transillumination photos of the lids, Schirmer tests I and II, tear film break-up time (BUT) assessment, corneal fluorescein staining, DR-1 tear film lipid layer interferometry, and tear evaporation rate measurements. RESULTS: Slit-lamp examination revealed conjunctival hyperemia, superficial punctate keratopathy, and corneal leucoma with neovascularization. Although the Schirmer test values were within normal limits, the BUT value was 0 s in both eyes. transillumination of the lids showed the absence of meibomian glandular structures. DR-1 tear film lipid layer interferometry results were dry eye grade 5 with an irregular tear film, areas of corneal surface exposure, and several dry spots. The tear evaporation rate was elevated and was measured as 6.98 x 10(-7) g/cm2 per second (normal, 4.1 /- 1.4 x 10(-7) g/cm2 per second). CONCLUSION: The ocular surface disorder and shortened BUT in EEC syndrome were attributed to the absence of meibomian glands, leading to lipid layer deficiency in the tear film with a concomitant increase in tear evaporation.- - - - - - - - - - ranking = 0.33333333333333keywords = gland (Clic here for more details about this article) |
3/13. ectodermal dysplasia showing clinical overlap between AEC, Rapp-Hodgkin and CHAND syndromes.The ectodermal dysplasias represent a complex collection of congenital abnormalities of skin, hair, teeth, nail, and sweat gland development, many of which have overlapping clinical features. In this report, we describe a 7-year-old girl, born to clinically normal parents, with ankyloblepharon, cleft lip/palate and hair abnormalities, features resembling the autosomal dominant disorder, ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome, which results from mutations in the sterile-alpha motif domain of the gene encoding the transcription factor, p63. However, direct sequencing of the p63 gene in this individual did not reveal any pathogenic sequence variants. Moreover, two of her paternal cousins were discovered to have similar congenital ectodermal anomalies, raising the alternative possibility of an autosomal recessive pattern of inheritance. Furthermore, all affected individuals lacked a history of erosive scalp dermatitis that is usually characteristic of AEC syndrome. Instead, the scalp hair was coarse and wiry. In addition, another atypical feature, hypohidrosis, was present. Collectively, the clinical features also resembled Rapp-Hodgkin syndrome, Bowen-Armstrong syndrome and CHAND syndrome, but did not appear to fit neatly with any one particular disorder. This case highlights the difficulties in trying to classify the ectodermal dysplasia syndromes on clinical features alone.- - - - - - - - - - ranking = 0.16666666666667keywords = gland (Clic here for more details about this article) |
4/13. Bilateral thymus found in association with unilateral cleft lip and palate.Ectopic localizations of the thymus have been reported in a variety of unusual sites, but not on the surface of the skin of the neck. As one can see in our case, the left neck mass (1.5 x 2 x 0.5 cm) and the right neck mass (4 x 4 x 0.5 cm), when added together in weight, also equal the total weight of the thymus at birth. Also, not being able to encounter the "sail sign" of the thymus gland on the chest x-ray proved to us that no other thymus gland was present. Because of these unusual findings, prior to excision of any congenital lesion in the neck, a biopsy should be done, and only after that should one proceed with the necessary surgical intervention. We are presenting this case because it is unique in this category.- - - - - - - - - - ranking = 0.33333333333333keywords = gland (Clic here for more details about this article) |
5/13. Absent meibomian glands in the ectrodactyly, ectodermal dysplasia, cleft lip-palate syndrome.A 27-year-old woman with the syndrome characterized by ectrodactyly, ectodermal dysplasia, and cleft lip-palate had an absent lacrimal punctum in each eye, with signs and symptoms of nasolacrimal obstruction during childhood. Examination disclosed bilateral corneal vascularization and opacification, with diffuse superficial punctate staining of the ocular surface epithelium by fluorescein, an instantaneous tear film break-up time, and normal Schirmer tear measurements. A full-thickness biopsy specimen of the eyelid confirmed the absence of meibomian glands that had been suspected because of absent meibomian gland orifices and secretions. The total absence of meibomian gland secretions in this patient may be a primary feature of this case and may contribute to a lipid-deficient and unstable tear film with resultant desiccation and destruction of the ocular surface epithelium. Breakdown of the corneal epithelium in association with obstruction and infection of the nasolacrimal system may be a particularly disastrous combination for the cornea that resulted in the recurrent, severe bacterial corneal ulcers found in our patient.- - - - - - - - - - ranking = 1.1666666666667keywords = gland (Clic here for more details about this article) |
6/13. A three generation family study of cleft lip with or without cleft palate.A family study of cleft lip, with or without cleft palate, was based on those treated by operation at The Hospital for Sick Children, london, between 1920 and 1939 in order to give information on the proportion affected of children and grandchildren. The probands were those who had survived, were successfully traced, and found to have had at least one child. Care was taken to exclude patients who were traced through a child, whether normal or affected, and not through the usual tracing procedure. patients with recognised syndromes were also excluded. Because the series was based on patients who had survived and reproduced it was biased in favour of those with milder degrees of the malformation, and against those with any severe associated malformation. The proportion affected of children of probands was 3.15% ( /- 0.56), of sibs 2.79% ( /- 0.52), and of parents 1.18% ( /- 0.37), respectively. The lower proportion of parents affected is attributed to reduced reproductive fitness of patients born two generations ago. The proportion affected of nephews and nieces, aunts and uncles, and grandchildren was 0.47% ( /- 0.18), 0.59% ( /- 0.13), and 0.8% ( /- 0.6) respectively. The proportion affected of first cousins was 0.27% ( /- 0.08). The birth frequency of cleft lip ( /- cleft palate) is estimated to be about 0.1% in england. There were two first cousin and one second cousin marriages among the marriages of the parents. There was no increase of cleft palate among the relatives of the probands. The proportion of sibs affected increased with increasing severity of the malformation in the proband, where the proband was female, and where the proband had an affected parent or already had one affected sib. It was not, however, increased where a more remote relative was affected. The proportion of children affected was not increased when the proband had an affected parent or sib, but few families provided information. The most economical hypothesis to explain the findings is the multifactorial threshold model. The birth frequency of the malformation and the family patterns found make it improbable that one single mutant gene makes a major contribution to the liability to develop the condition.- - - - - - - - - - ranking = 0.16666666666667keywords = gland (Clic here for more details about this article) |
7/13. Oropharyngeal hairy polyp with meningothelial elements.The so-called hairy or teratoid polyp is a rare lesion of bigerminal origin that comprises elements derived from both ectodermal and mesodermal cell lines. In this article we report the presence of meningothelial elements in a hairy polyp, a previously undescribed component of this entity. The lesion was characterized by a pedunculated outgrowth from the hard palate. The surface of the outgrowth was covered by squamous epithelium and a central core of fibroadipose tissue, pilosebaceous glands, cleftlike pseudovascular spaces, and groups of epithelioid cells. These reticulated and cellular foci had the immunohistochemical and ultrastructural features of meningothelial tissue.- - - - - - - - - - ranking = 0.16666666666667keywords = gland (Clic here for more details about this article) |
8/13. hamartoma of the tongue in an infant with a primary diagnosis of ectrodactyly-ectodermal dysplasia-cleft lip and palate syndrome.We describe a case of an unusual tongue hamartoma associated with ectrodactyly-ectodermal dysplasia-clefting syndrome in a 3-month-old white female infant. The lesion was composed of a mixture of salivary glands, adipose tissue, smooth muscle and skeletal muscle in a haphazard fashion. Lingual hamartomas are rare and can present a clinical differential diagnostic problem. We review the literature on this unique combination of malformations.- - - - - - - - - - ranking = 0.16666666666667keywords = gland (Clic here for more details about this article) |
9/13. Isolated aplasia of the anterior pituitary gland with unusual associations.A male infant was found to have cleft lip and palate with micropenis at birth. He suffered recurrent episodes of hypoglycaemia in the first 3 days. CT scan showed possible incomplete division of the frontal lobes and endocrinological investigations confirmed hypopituitarism. He developed renal and respiratory failure and died at the age of 10 days. Post mortem showed an absent adenohypophysis, an intact neurohypophysis, absent olfactory tracts and polysplenia.- - - - - - - - - - ranking = 0.66666666666667keywords = gland (Clic here for more details about this article) |
10/13. Ocular manifestations in a father and son with EEC syndrome.BACKGROUND: The ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome is a rare disease which follows an autosomal-dominant pattern of inheritance. Due to the ectodermal dysplasia there is atresia of the lacrimal duct system and aplasia of the meibomian glands with a defective tear film. Therefore, vascularized corneal scars often form during early adult life. patients: Father aged 41 years, and son aged 23 months. Both patients: stenosis/atresia of lacrimal duct systems (the father had twice undergone dacryocystorhinostomy externally) with epiphora, lip-palate clefting, syndactylies of fingers and toes, lobster deformities of hands. Additional ophthalmological findings in the father: bilaterally extracted juvenile cataracts with implantation of intraocular lenses, bilateral extensive vascularized corneal scars. Additional dermatological findings in the father: malignant melanoma of the calf, now in complete remission following several operations on the melanoma and several cycles of chemotherapy for the metastases. DISCUSSION AND THERAPEUTIC CONCLUSIONS: Father and son show the full clinical picture of the EEC syndrome with clefting, lobster-like deformities of the hands and ectodermal dysplasia with tear duct atresia and aplasia of the meibomian glands with defective tear film. During childhood, the main handicapping features are the clefting and the hand deformities with their respective multiple operative revisions. During early adulthood, however, the ocular problems become the predominantly handicapping aspects of the EEC syndrome; due to the ectodermal dysplasia, vascularized corneal scarring develops. Tearing and secondary inflammation due to lacrimal duct atresia has to be treated by early dacryocystorhinostomy. As secondary infections promote the development of corneal scars, one should not postpone the operation too long. Infections have to be treated promptly by local antibiotics. Because of the aplasia of the meibomian glands, artificial tear substitution should be given on a regular basis to support the defective tear film. Thus, the development of vascularized corneal scars can perhaps be delayed. Once corneal scarring has developed, perforating keratoplasty has a poor prognosis due to the ectodermal dysplasia, the absence of the meibomian glands and the defective tear film. Three factors lead to the formation of vascularized corneal scars: recurrent infections of lid margins and conjunctiva due to obstructed tear ducts; defective tear film with insufficient lipid phase due to the aplasia of the meibomian glands; and primary corneal epithelial defects in the course of the generalized ectodermal dysplasia.- - - - - - - - - - ranking = 0.83333333333333keywords = gland (Clic here for more details about this article) |
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