Possible second case of tricho-oculo-dermo-vertebral (Alves) syndrome

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We report on a 10-year-old girl with trichodysplasia, onychodysplasia, hyperpigmented ichthyoform lesions on her shins, mild enamel dysplasia, and hyperkeratosis involving the soles. This combination of ectodermal defects has only been described by Alves et al.

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... Stevanovi c [1959] first described a four-generation family segregating for a syndrome of hypotrichosis (alternatively named congenital alopecia; CA) and palmoplantar keratoderma (PPK; alopecia congenita with keratosis palmoplantaris, OMIM 104100). Since then, this condition was described in few families with the designation of cataracts-alopecia-sclerodactyly [Wallis et al., 1989], Vohwinkel disease with CA universalis [Bhatia et al., 1989], Alves syndrome [Stratton et al., 1993], and keratodermahypotrichosis-leukonychia totalis [Başaran et al., 1995]. The combination of PPK and hypotrichosis can be also observed in various well-defined genodermatoses, but all of them can be differentiated on the basis of specific additional manifestations. ...
... The tricho-oculo-dermo-vertebral syndrome was originally described in a 20-year-old woman with PPK, hypotrichosis, dystrophic nails, generalized ichthyotic skin changes, facial anomalies, cataract, and kyphoscoliosis [Alves et al., 1981]. Of note, a second patient was claimed to be affected with the same condition, alternatively named Alves syndrome [Stratton et al., 1993]. However, based on clinical details and available pictures, the sole relevant clinical findings in this second individual were hypotrichosis, PPK, nail changes, and dry skin. ...
... Although clinical variability of the same gene cannot be definitively excluded, it is very likely that these two patients have different conditions. In particular, the patient of Stratton et al. [1993] is undoubtedly more similar to our case and, consequently, was included in the following discussion as a further example of PPK-CA. Steijlen et al. [1994] described a family with PPK, hypotrichosis, mental retardation, and parodontopathy, segregating as an autosomal recessive trait. ...
Palmoplantar keratoderma (PPK) may concur with congenital alopecia (CA) in various genodermatoses. We report on a 10-year-old girl with generalized atrichia and a severe form of PPK causing pseudo-ainhum, sclerodactyly, and contractures, a phenotype not consistent with any well-defined condition. Non-specific additional findings comprised mild nail dystrophy and widespread keratosis pilaris including ulerythema ophryogenes. Direct sequencing of the GJB2 and LOR coding regions yielded normal results. A review identified two additional sporadic and four familial cases with PPK and CA. Comparison between familial cases suggested the existence of two genetically and phenotypically distinct types of PPK-CA: (i) an autosomal dominant form (Stevanović type), a variable and benign phenotype without significant hand complications, and (ii) a more complex autosomal recessive variant (Wallis type) with contractures, sclerodactyly, and pseudo-ainhum. Nuclear cataract may represent an additional although not constant finding in the Wallis type PPK-CA. Further reports are required to test this preliminary conclusion.
... The combination of PPK and hypotrichosis (also referred to as congenital alopecia or CA), as found in our patient, can be observed in various well-defined genodermatoses, which are differentiated on the basis of specific additional manifestations and genetic findings. [2][3][4][5][6][7] Stevanovi c 2 in 1959 first described a 4-generation family presenting with hypotrichosis (CA) and PPK. Since then, variants of the condition, including cataracts-alopecia-sclerodactyly, Vohwinkel disease with CA universalis, Alves syndrome, and keratodermaehypotrichosiseleukonychia totalis, have been described in multiple families. ...
... Since then, variants of the condition, including cataracts-alopecia-sclerodactyly, Vohwinkel disease with CA universalis, Alves syndrome, and keratodermaehypotrichosiseleukonychia totalis, have been described in multiple families. [3][4][5][6] Castori et al 7 reported a case of a 10-year-old girl with generalized atrichia and a severe form of PPK causing pseudoainhum, sclerodactyly, and contractures. As in our patient, the patient's mother reported that she had been born with scalp hair and eyebrows, which was subsequently lost around 1 month of age. ...
... 7 The genetics of PPK-CA remain unknown. [2][3][4][5][6][7] Over the last several years, animal experiments have related alterations in the expression of certain connexin subtypes to epileptogenesis, and there are several reports of patients with Vohwinkel syndrome reported to also have a history of cryptogenic partial epilepsy, postulated to be related to the role of connexin 26 in neuronal migration. 8 Cambiaghi et al 9 reported a case of a girl having seizures shortly after birth, followed by universal alopecia at 4 months of age and PPK at 10 years of age, with later development of pseudoainhum, similar to our patient. ...
Many defects of the nails are accompanied by developmental changes in other organs, such as skin, teeth, brain, and bones. Recognition of nail defects may help in the diagnosis of hidden syndromes or more generalized disease. Congenital and hereditary nail dystrophies are classified according to whether the defects occur in the nail matrix, the nail fold, or the nail bed. A defect in the nail matrix is the most common cause of abnormal nails. The matrix can have an abnormal position, size, or quality. Proliferation of the nail bed will produce a thickened nail which, as in pachyonychia congenita, is not evident until early childhood. Mosaic disorders can most easily be studied in the skin and therefore may involve the nail apparatus. Three groups of mosaic nail disorders can be distinguished in the form of ungual hamartomas, diseases reflecting functional X‐chromosome mosaicism, and some particular linear inflammatory skin disorders involving the nail region. In women affected with X‐linked skin disorders, a mosaic involvement of nails may be noted as a result of X‐inactivation (lyonization). Many of these phenotypes are caused by X‐linked, male‐lethal mutations.
Palmoplantar keratoderma-congenital alopecia (PPKCA) syndrome is a rare genodermatosis, with two clinically recognizable forms: dominant (Type 1) and recessive (Type 2). Reports of only 18 patients have been published to date, and the molecular basis of the condition is unknown. We describe two cases with PPKCA Type 2 (PPKCA2), comprising a novel patient, originally reported as an example of autosomal ichthyosis follicularis-atrichia-photophobia syndrome, and the 6-year follow-up of a previously published case. Extensive molecular studies of both patients excluded mutations in all the known genes associated with PPK and partially overlapping syndromes. The striking similarities between these two patients confirm PPKCA2 as a discrete genodermatosis, of which the main features are congenital and universal alopecia, diffuse keratosis pilaris, facial erythema, and a specific PPK with predominant involvement of the fingertips and borders of the hands and feet, with evolution of sclerodactyly, contractures and constrictions. Clinical follow-up of these patients has demonstrated progressive worsening of the hand involvement and attenuation of facial erythema.
Während die häufigsten Alopezien (Zustand der erworbenen Haarverminderung an Stellen, die normalerweise behaart sind) mit genetischem Hintergrund die androgenetische Alopezie und die Alopecia areata sind, bei denen eine polygene Vererbung bzw. eine immungenetische Prädisposition angenommen werden, besteht eine Reihe seltener, genetisch bedingter Atrichien (Zustand der Haarlosigkeit) und Hypotrichosen (Zustand der verminderten Behaarung) mit mendelscher Vererbung, deren zugrunde liegende Gendefekte bisher nur in wenigen Fällen identifiziert wurden und die sich überdies oft durch eine Pleiotropie mit weiteren Anomalien, z. B. im Rahmen von Ektodermaldysplasien, auszeichnen (Tab. 5.1).
Genetisch bedingter Fehlbildungskomplex auf der Grundlage einer Genmutation.
Arthrogryposis is the term used to describe conditions with nonprogressive multiple congenital contractures. The term is descriptive rather than diagnostic and refers to over 350 specific disorders; in more than one-third of these the responsible gene has been identified. Arthrogryposis occurs in about 1/4000 newborns. This chapter suggests a clinical approach to diagnosis including important elements of pregnancy, delivery, and family history, physical examination, and natural history. Multiple tables help the reader with the differential diagnosis. Prenatal diagnosis, therapy, and laboratory tests are also discussed.
We report on a girl with Floating-Harbor syndrome, trigonocephaly due to metopic suture synostosis, preauricular pit, hypoplastic thumb, subluxated radial head, and Sprengel deformity. A review suggests that trigonocephaly may be an important craniofacial manifestation in this syndrome that is recognizable in infancy. With time, this finding appears to become less noticeable, and the face develops a triangular shape, accentuated by a broad and bulbous nose. Am. J. Med. Genet. 76:58–61, 1998. © 1998 Wiley-Liss, Inc.
We present a casual review of 154 ectodermal dysplasias (EDs) as classified into 11 clinical subgroups. The number of EDs in each subgroup varies from one to 43. The numbers of conditions due to autosomal dominant, autosomal recessive, and X-linked genes are, respectively, 41, 52, and 8. In 53 conditions cause is unknown; 35 of them present some causal (genetic) suggestion.
We describe a 20-year-old woman with generalized trichodysplasia, dry skin with scaling, hyperchromic spots on limbs, hyperkeratosis (particularly intense on soles), dermatoglyphic abnormalities, onychodysplasia, shortness of stature, kyphoscoliosis, unusual facial appearance, minor malformations of limbs, bilateral nuclear cataract, narrow palpebral fissures, entropion, trichiasis, etc. The condition is probably due to an autosomal recessive gene. The patient is the only affected member in a sibship of four whose parents are second cousins.