Congenital Ectodermal Defect Research Articles

Non-syndromic non-familial bilateral parotid and submandibular salivary gland aplasia with lacrimal duct atresia: A rare congenital ectodermal defect

Salivary gland agenesis is a rare disorder, which can appear singly or in combination with other genetic disorders. Bilateral parotid and submandibular salivary gland aplasia is an extremely rare condition found to be associated with mutation of gene encoding fibroblast growth factor (FGF) 10. Here, we present a rare case of non-syndromic non-familial bilateral parotid and submandibular salivary gland aplasia with lacrimal duct atresia in a 7-year-old male patient.

Heterozygous p.Asp50Asn mutation in the GJB2 gene in two Cameroonian patients with keratitis-ichthyosis-deafness (KID) syndrome

BackgroundKeratitis-Ichthyosis-Deafness (KID) syndrome (OMIM 148210) is a congenital ectodermal defect that consists of an atypical ichthyosiform erythroderma associated with congenital sensorineural deafness. KID appears to be genetically heterogeneous and most cases are caused by GJB2 mutations. Mutations in African patients have been rarely described.Case presentationWe report on two unrelated Cameroonian individuals affected with sporadic KID, presenting with the classic phenotypic triad. The two patients were heterozygous for the most frequent p.Asp50Asn mutation. This first report in patients from sub-Saharan African origin supports the hypothesis that the occurrence of KID due to p.Asp50Asn mutation in GJB2 seems not to be population specific.ConclusionsOur finding has implication in medical genetic practice, specifically in the molecular diagnosis of KID in Africans. These cases also reveal and emphasize the urgent need to develop appropriate policies to care for patients with rare/orphan diseases in Sub-Saharan Africa, as many of these cases become more and more recognizable.

Germline mosaicism in keratitis–ichthyosis–deafness syndrome: pre‐natal diagnosis in a familial lethal form

Keratitis-ichthyosis-deafness (KID) syndrome is an autosomal dominant congenital ectodermal defect characterized by the association of skin lesions, hearing loss and keratitis. Most of the cases appear to be sporadic. KID syndrome is mostly related to mutations of GJB2 gene encoding connexin-26. Recently, a lethal form of the disease during the first year of life has been reported in two unrelated Caucasian patients. This rare lethal form is caused by the G45E mutation of GJB2 gene. We here report the first pre-natal molecular genetic diagnosis of the lethal form of KID syndrome relating to a G45E mutation. In the same family, the occurrence of this condition in three other siblings born to African non-consanguineous healthy parents lead to perform pre-natal diagnosis for this last pregnancy. Molecular analysis confirms the diagnosis of the lethal form of KID for the fetus. These results establish the role of germline mosaicism in KID syndrome and warrant careful genetic counseling. Furthermore, analysis of our cases and the literature allowed us to define a characteristic severe neonatal phenotype including facial dysmorphy, severe cornification with massive focal hyperkeratosis of the skin with erythroderma, dystrophic nails, complete atrichia and absence of foreskin.

A familial case of Keratitis-Ichthyosis-Deafness (KID) syndrome with the GJB2 mutation G45E

Keratitis-Ichthyosis-Deafness (KID) syndrome (OMIM 148210) is a congenital ectodermal defect. KID consists of an atypical ichthyosiform erythroderma associated with congenital sensorineural deafness. A rare form of the KID syndrome is a fatal course in the first year of life due to severe skin lesion infections and septicaemia. KID appears to be genetically heterogeneous and may be caused by mutations in connexin 26 or connexin 30 genes. GJB2 mutations in the connexin 26 gene are the main cause of the disease. Most of the cases caused by GJB2 mutations are sporadic, but dominant transmission has also been described. To date, the rare lethal form of the disease has been only observed in two Caucasian sporadic patients with the GJB2 mutation, with the p.Gly45Glu (G45E) arising de novo. We have reported an African family with dizygotic twins suffering from a lethal form of KID. The dizygosity of the twins was confirmed by microsatellite markers. The two patients were heterozygous for the G45E mutation of GJB2, whereas the mutation was not detected in the two parents. The unusual transmission of the disease observed in this family could be explained by the occurrence of a somatic or more probably a germinal mosaic in one of the parents.

Keratitis, ichthyosis, and deafness (KID syndrome): review of the literature and proposal of a new terminology.

The so-called KID (keratitis, ichthyosis, deafness) syndrome is a congenital disorder of ectoderm that affects not only the epidermis, but also other ectodermal tissues such as the corneal epithelium and the inner ear. Sixty-one patients who fulfill the criteria for this syndrome were identified in a review of the literature through December 1993. All had cutaneous and auditory abnormalities, and 95% also had ophthalmologic defects. The most frequent clinical features were neurosensory deafness 90%, erythrokeratoderma 89%, vascularizing keratitis 79%, alopecia 79%, and reticulated hyperkeratosis of the palms and soles 41%. All of these findings constitute the major criteria for the diagnosis. The KID acronym does not accurately define this entity since the disorder is not an ichthyosis, because scaling is not the main cutaneous feature and not all patients have keratitis early in the course. We suggest that this syndrome should be included under the general heading of congenital ectodermal defects as a keratodermatous ectodermal dysplasia (KED).

Keratitis, Ichthyosis, and Deafness (KID) Syndrome

A father and daughter had typical clinical features of the keratitis, ichthyosis, and deafness (KID) syndrome, as described by Skinner et al in 1981. To our knowledge, ours is the first observation of a vertical transmission of this syndrome. The mechanism of inheritance is uncertain. These two patients as well as the 26 previously described exhibited a typical hyperkeratotic eruption, which should not be confused with ichthyosis. The characteristic features are diffuse hyperkeratosis, keratotic plaques, reticulated hyperkeratosis on the face, peribuccal grooves, and heavy-grain leatherlike keratoderma. The occurrence of multiple squamous cell carcinomas underlines the seriousness of this congenital ectodermal defect. Etretinate can relieve the lesions without actually improving the chances of survival.

Heritability of an ectodermal defect. A study of affected dogs.

A canine congenital ectodermal defect, manifest as a patterned absence of cutaneous appendages, could prove useful for experimental studies on cutaneous oncogenesis. Breeding and previous pedigree data suggest X‐linked recessive inheritance of the ectodermal defect in miniature poodles.

Complete breast absence in siblings.

BILATERAL absence of the breast and nipple development in the absence of congenital ectodermal defect or other congenital anomalies is a very rare occurrence. Prior to this century three cases of the isolated anomaly were reported. 1-3 Two more recent reports 4,5 have been made in which the condition appeared in several members of a family. The subject has been recently reviewed by Trier 6 who reported an isolated case. In this report we shall present the case of a brother and sister who exhibited this condition. Report of Cases Case1.—This white girl was born on Feb 2, 1961, the product of a first pregnancy. For most of the gestational period, the mother states that she suffered from nausea and vomiting, for which she took pipamazine tablets (Mornidine), 5 mg twice daily. There were no other prepartum complications, nor was the mother subjected to radiation at this time. Spontaneous

Congenital deafness associated with onychodystrophy.

Congenital dystrophy or absence of the nails are rare anomalies which occur in a variety of forms. A few or all of the nails may be involved. The abnormality may be the only malformation present, or it may be associated with developmental defects of teeth and the pilosebaceous apparatus as part of a more widespread congenital ectodermal defect. 1 The association of defective nails with absent or rudimentary patellae and deformities of the elbows, fingers, and toes is known as the nailpatella syndrome or hereditary onychoosteodysplasia.2 An account follows of 2 siblings in each of whom congenital nail dystrophy was associated with deafness. No previous report of such an association has been found in a search of the available literature. Report of Cases A 10-year-old girl, whose parents were first cousins on the maternal and second cousins on the paternal side, was examined because of deafness. She was the second

Lamellar exfoliation of the newborn, or ichthyosis congenita.

A baby who was born with a collodion-like membrane over the entire body has recently been under our observation. We used the term exfoliation of the introduced by Grass and Torok 1 but observed the baby for two years before establishing a final diagnosis. The actual significance of this term is not clear, nor is its use universally accepted. Shelmire Jr. 2 recently reviewed the literature and found 15 cases of this entity. He proposed preservation of the term lamellar exfoliation of the newborn as descriptive of a distinct entity and suggested that the frequent association of this defect with ichthyosis is but another example of multiple congenital ectodermal defects. He noted, however, that even in the mildest cases there was usually residual dryness and desquamation of the skin. In reviewing the literature on this subject, 3-5 we found only one instance in which the skin was described

A Unique Case of Trichorrhexis Nodosa—"Bamboo Hairs"

In 1949 I examined a little girl who had a congenital ectodermal defect manifested by a unique type of fragilitas crinium which, so far as I have been able to determine, has not been discussed in the literature. I have been diffident about reporting my findings because the patient lived in a distant city and, therefore, was unable to remain under prolonged observation. However, a resume of her history, together with mounted hairs or photographs of them, has evinced such interest among several eminent dermatologists that I am encouraged to believe that such a rare type of fragilitas crinium warrants this report. Report of a Case A girl, aged 4 years, was admitted to The Cleveland Clinic on Nov. 22, 1949, because the hair on the scalp had failed to grow to normal length (there had been no area of baldness), and a pruritic eruption had been

A review of Werner's syndrome, with a report of the second autopsied case.

Excerpt In 1868 Rothmund1published his observations on "Cataracts in Association with a Peculiar Degeneration of the Skin," a heredofamilial disorder found in the consanguineous populations of thre...

CONGENITAL ECTODERMAL DEFECT WITH AMASTIA

Congenital ectodermal defect is a rare syndrome characterized by hypotrichosis, absence of sweat glands, absence of sebaceous glands, adontia or hypodontia, a characteristic facies, and, occasionally, absence of the mammary glands. About 80 such cases have been reported, but only 4 of these (all male) have had absence of the breasts and nipples. 1 The purpose of this report is to record a case of this variety. A brief consideration of the clinical appearance of patients with ectodermal defect (Fig. 1) reveals a great similarity in their appearance. The skin is thin, dry, and glossy, and the facies is somewhat suggestive of congenital syphilis. Frontal bossing is prominent, the supraorbital ridges are high and wide, the nasal bridge depressed, the lips thick and protruding, the teeth absent or deficient, and the nails normal or dystrophic. Cases have been reported of absence of mammary glands, chiefly in females, unassociated with

Congenital ectodermal defect: Report of an unusual case involving scalp and leg

Summary A case of congenital ectodermal defect of the scalp is presented. The scalp lesion is typical clinically of the majority of cases previously described. However, the ankle lesion, unlike most ectodermal defects, is not symmetrical and is associated with a decided deformity due to scar tissue formation.

HEREDITARY ECTODERMAL DYSPLASIA

Case Reports1 January 1944HEREDITARY ECTODERMAL DYSPLASIAFRANCIS E. BRUNO, M.D., HUGO T. ENGELHARDT, M.D.FRANCIS E. BRUNO, M.D.Search for more papers by this author, HUGO T. ENGELHARDT, M.D.Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-20-1-140 SectionsAboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail ExcerptRecently we have had occasion to observe a family which exhibited some of the clinical characteristics of hereditary ectodermal dysplasia. These characteristics have been described in detail by other authors.1, 2, 3, 4, 5, 6, 7, 8, 9 Therefore, we wish to limit this presentation to case reports and a brief discussion of this interesting and rare anomaly. Of this family of seven children, four manifested definite evidences of this defect.CASE REPORTSCase 1. Mrs. R. D. P., aged 25, a white female, was admitted to the Department of Medicine, Hutchinson Memorial Clinic on October 24, 1941. The chief...Bibliography1. WEECH AA: Hereditary ectodermal dysplasia, Am. Jr. Dis. Child., 1929, xxxvii, 766. CrossrefGoogle Scholar2. MACKEEANDREWS GMGC: Congenital ectodermal defect, Arch. Dermat. and Syph., 1924, x, 673. CrossrefGoogle Scholar3. EISENSTAEDT JS: Three cases of family dystrophy of the hair and nails, Jr. Am. Med. Assoc., 1913, lx, 27. CrossrefGoogle Scholar4. JACOBSEN AW: Hereditary dystrophy of the hair and nails, Jr. Am. Med. Assoc., 1928, xc, 686. CrossrefGoogle Scholar5. SCHWARZ EG: Hereditary ectodermal dysplasia of the anhidrotic type, with a report of two cases, South. Med. Jr., 1935, xxviii, 606. CrossrefGoogle Scholar6. DESILVA PC: Hereditary ectodermal dysplasia of the anhidrotic type, Quart. Jr. Med., 1939, viii, 97. Google Scholar7. HEBERTGARLAND JMJ: Hereditary ectodermal dysplasia of the anhidrotic type with case report, New England Jr. Med., 1934, ccx, 784. CrossrefGoogle Scholar8. GORDENJORNISON WHPC: Hereditary ectodermal dysplasia of the anhidrotic type, ANN. INT. MED., 1931, v, 358. Google Scholar9. SOECKERMANN WH: Congenital ectodermal defect with report of a case, Arch. Dermat. and Syph., 1920, i, 396. CrossrefGoogle Scholar10. NEUMANNCOHNBURCH CAEGE: A quantitative method for the measurement of the rate of water loss for small areas, Am. Jr. Physiol., 1941, cxxxii, 748. CrossrefGoogle Scholar11. BURCHSODEMAN GEWA: To be published. Google Scholar12. THANNHAUSER SJ: Hereditary ectodermal dysplasia of the anhidrotic type, Jr. Am. Med. Assoc., 1936, cvi, 908. CrossrefGoogle Scholar13. BARRETT AM: Hereditary occurrence of hypothyroidism with dystrophies of the nails and hair, Arch. Neurol. and Psychiat., 1919, ii, 628. CrossrefGoogle Scholar14. EMERSONWALSHHOWARD KFBJE: Idiopathic hypoparathyroidism, a report of two cases, ANN. INT. MED., 1941, iv, 1256. Google Scholar15. WECHSELMANNLOEWY WA: Untersuchungen, an drei blutverwandten Personen mit ektodermalen Hemmungsbildungen besonders des Hautsdrüssen-systems, Berl. klin. Wchnschr., 1911, xlviii, 1369. Google Scholar This content is PDF only. To continue reading please click on the PDF icon. Author, Article, and Disclosure InformationAffiliations: New Orleans, Louisiana*Received for publication June 22, 1942.From the Department of Medicine, School of Medicine of Tulane University of Louisiana and Charity Hospital of Louisiana, New Orleans, Louisiana. PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics Cited byThe effect of early dental treatment of anhydrotic ectodermal dysplasiaCase report of congenital ectodermal dysplasia and rehabilitation with denture prosthesis. IAnhidrotic Ectodermal Dysplasia with Anodontia: A Study of Two FamiliesCongenital Ectodermal Dysplasia 1 January 1944Volume 20, Issue 1Page: 140-144KeywordsChildrenDysplasiaHospital medicine ePublished: 1 December 2008 Issue Published: 1 January 1944 PDF downloadLoading ...

HEREDITARY ECTODERMAL DYSPLASIA OF THE ANHIDROTIC TYPE

Cases of hereditary ectodermal dysplasia of the anhidrotic type are still sufficiently rare to warrant publication, and when 2 classic cases in one family are discovered, we feel justified in bringing the subject before dermatologists once more. The question of the designation of this disease—congenital ectodermal defect or hereditary ectodermal dysplasia of the anhidrotic type —is of interest and has not been fully settled. As the title of our paper signifies, we prefer the latter term as being more descriptive of the condition under discussion. Congenital ectodermal defect may apply to a great variety of congenital anomalies of the ectoderm, from minor aberrations in dentition, abnormalities of the nails or hirsute adornment to a major defect presenting all these difficulties, combined with absence of sweat glands and marked decrease in sebaceous gland formation as well. The term congenital ectodermal defect has led to considerable confusion in the literature—so much that

Congenital Ectodermal Defect: Hyperkeratosis of Palms; Atrophy of Nails and Adjoining Skin over Dorsum of Terminal Phalanges; Microdontism; Cicatricial Alopecia

Congenital Ectodermal Defect: Hyperkeratosis of Palms; Atrophy of Nails and Adjoining Skin over Dorsum of Terminal Phalanges; Microdontism; Cicatricial Alopecia

Congenital Ectodermal Defects

Congenital Ectodermal Defects

Congenital Ectodermal Defect

Congenital Ectodermal Defect

"CONGENITAL ECTODERMAL DEFECT"

ABSTRACT To the Editor: —In our article entitled Congenital Ectodermal Defect (Arch. Dermat. & Syph. 10:673 [Dec.] 1924), an unintentional injustice was done Dr. Henry B. Richardson of the Russell Sage Institute of Pathology. Our patient was investigated by Dr. Richardson in connection with extensive original basal metabolism research with the calorimeter. Through an unfortunate misunderstanding, his tests on our patient were published in our paper without specific permission; and while we credited the institute with the work, we failed to state that the tests were part of the original investigation being conducted by Dr. Richardson.In an editorial (The Journal, February 14, p. 518), which comments on our article, the reader gains the impression that we did the basal metabolism work which, of course, is erroneous.The misunderstanding has interfered with the publication of Dr. Richardson's work, for which we are very sorry.