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Ozena is quite a common clinical finding in ENT practice in many countries, but even if the pathological picture is clear, its etiology is unknown. We report on two young females in which ozena was the presenting symptom of a rare and severe genetic disorder (hypohidrotic ectodermal dysplasia, HED). Etiopathogenetic theories on ozena and genetic problems of HED are discussed.
A 17-year-old female patient presented extreme growth failure, severe microcephaly and developmental delay, and a unique pattern of congenital anomalies, predominantly of the skeleton and the skin. Prominent findings included hidrotic ectodermal dysplasia with virtually complete absence of body hair, ichthyosiform hyperkeratosis of the skin over the lower legs, dysplasia of toenails; small hands and feet with with short fifth fingers and toes complete cutaneous syndactyly between toes 4 and 5; in X-rays, fusion of several vertebral bodies, humero-radial ankylosis, fusion between talus and navicular bone, lunate and triquetral, and proximal fusion between metacarpals 4 and 5; and luxation of the right femoral head. The patient might represent a hitherto undescribed malformation syndrome of unknown etiology.
A new form of genodermatosis resulting from mutations in the gene plakophilin 1 (PKP1) has recently been identified. The clinical features of a functional knockout of PKP1 are a combination of skin fragility and a form of hypohydrotic ectodermal dysplasia. We have developed a single cell polymerase chain reaction (PCR) assay suitable for preimplantation genetic diagnosis (PGD) and here we report on the clinical application of this assay.
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This is a report of three male siblings suffering from almost complete Atrichia, dental and osseous anomalies and also multiple disseminated horny papules. These latter lesions are caused by follicular plugging with a horny substance possibly due to a disorder of keratinisation as seen in patients with partial ectodermal dysplasia. Clinical manifestations and possible variations of this syndrome are described and the hereditary patterns are discussed.
The authors present the case of a patient hospitalized with the diagnosis of "fever of undetermined origin" (FUO) in whom the physical examination and laboratory tests (including a skin biopsy) showed that the child had anhidrotic ectodermal dysplasia. We study the differential diagnosis, the clinical findings, the histopathology and genetics of this entity.
We report on a noninbred girl with cleft lip and palate, complete absence of deciduous teeth, hypodontia of permanent teeth, hair alterations, hypertelorism, midface hypoplasia, abnormal EEG, syndactyly, and other findings. Her mother had minor anomalies which could represent the mild expression of a gene. A review on the conditions combining ectodermal dysplasia and cleft lip/palate is presented.
Mutations in the epithelial morphogen ectodysplasin-A (EDA), a member of the tumor necrosis factor (TNF) family, are responsible for the human disorder X-linked hypohidrotic ectodermal dysplasia (XLHED) characterized by impaired development of hair, eccrine sweat glands, and teeth. EDA-A1 and EDA-A2 are two splice variants of EDA, which bind distinct EDA-A1 and X-linked EDA-A2 receptors. We identified a series of novel EDA mutations in families with XLHED, allowing the identification of the following three functionally important regions in EDA: a C-terminal TNF homology domain, a collagen domain, and a furin protease recognition sequence. Mutations in the TNF homology domain impair binding of both splice variants to their receptors. Mutations in the collagen domain can inhibit multimerization of the TNF homology region, whereas those in the consensus furin recognition sequence prevent proteolytic cleavage of EDA. Finally, a mutation affecting an intron splice donor site is predicted to eliminate specifically the EDA-A1 but not the EDA-A2 splice variant. Thus a proteolytically processed, oligomeric form of EDA-A1 is required in vivo for proper morphogenesis.
We describe a 2-year-old girl with virtual absence of body and scalp hair, rounded nails, thin dental enamel, preaxial polydactyly of feet, and unusual facial appearance. This combination of findings is not similar to that of any of the previously described ectodermal dysplasia syndromes and may represent a new disorder.
We report on two brothers with mental deficiency, short stature of prenatal onset, microcephaly, alopecia/sparse hair, follicular ichthyosis, multiple skeletal anomalies, and recurrent respiratory infections. The younger brother has celiac disease, cryptorchidism, inguinal herniae, and hypohidrosis, while the older brother has hidrotic ectodermal dysplasia, juvenile autoimmune thyroiditis, hypolacrimation, photophobia, and optic atrophy. Striking resemblance exists between our patients and those previously reported by Schinzel ¿1980: Helv Paediatr Acta 35:243-251 and van Gelderen ¿1982: Am J Med Genet 13:383-387. The fact that boys are born to young and healthy nonconsanguineous parents and there are no other affected relatives suggests autosomal or X-linked recessive inheritance or parental germinal mosaicism for a dominant mutation.
Hypoplastic-hypocalcified enamel of all permanent teeth and dysplasia of finger- and toe-nails were found in a 17-year-old Japanese male. Physical examination revealed no remarkable changes in skin, hair, sweat glands, bones, etc. Family history revealed the same abnormalities of teeth and nails in his mother's brother. A review of the literature concerning ectodermal dysplasia syndromes failed to reveal a combination of hypoplastic-hypocalcified enamel and dysplastic nails without changes in any other ectodermal tissues.
We report a 5-year-old girl with partial anodontia, hypotrichosis, hyperpigmentation of the skin, absence of pilosebaceous structures, and long thin fingers. There has as yet been, to the best of our knowledge, no report of such a combination of features. A review of conditions combining ectodermal dysplasia (subgroup 1-2) with skin manifestations is presented.
Eccrine syringofibroadenoma (ES) is generally regarded as a solitary benign adnexal neoplasm of the skin. Recently, the epithelial and stromal changes of this lesion have been recognized as being a reaction pattern in certain settings. We describe two individuals in whom this process was a manifestation of hidrotic ectodermal dysplasia. In both cases, the diagnosis had been missed for many years and the process had been thought to be a manifestation of an inflammatory dermatosis of the palms and soles. In both instances, other family members were found to be affected. Thus, ES may be manifested clinically as erythematous erosive plaques, especially of the palms and soles. It is important that clinicians be familiar with this disorder and be aware that it may exhibit unusual cutaneous manifestations.
Atrophic rhinitis is a chronic inflammatory disease of the nose. The aetiology of primary atrophic rhinitis is not yet known, although secondary atrophic rhinitis is known to be associated with chronic granulomatous diseases such as tuberculosis and leprosy. The authors report a case of atrophic rhinitis, which was a presenting feature of a rare genetic disorder known as Christ-Siemens-Touraine syndrome, also known as anhidrotic ectodermal dysplasia.
Fever--the most frequent symptom of diseases in children--points diagnostically to an infection. We report on a child who presented with recurrent high fever of unknown origin. Infectious diseases could be excluded. During a general medical checkup the results of repeated pilocarpine iontophoresis attracted attention by the minimal secretion of sweat. The diagnosis of hypohydrotic ectodermal dysplasia could be confirmed by dermal biopsy since all integumentary appendages were missing. Only 300 cases of this rare hereditary dysplasia can be found in the literature.
Sweat pores on the epidermal ridges are hypoplastic and reduced in number in three sisters affected with autosomal recessive hypohidrotic dysplasia. The heterozygote state is expressed by a reduced number of qualitatively normal sweat pores (14.07 +/- 8.59 as compared to 22.27 +/- 2.33 in controls). Clinical and genetic considerations suggest that this may be a distinct type that has to be differentiated from other autosomal recessive hypohidrotic ectodermal dysplasias. Heterozygote manifestation may contribute to delineate this groups of disorders further.
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This paper describes a 7-year-old girl with trichodysplasia, normal teeth, onychogryposis, hypohidrosis, psychomotor and growth retardation, dry and warm skin with follicular hyperkeratosis, pigmentary disturbances (hyper- and hypochromic spots), bilateral nuclear cataract, dermatoglyphic anomalies, and other signs. This condition is considered a new form of ectodermal dysplasia.