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Phenotypic Variability in Gap Junction Syndromic Skin Disorders: Experience from KID and Clouston Syndromes’ Clinical Diagnostics

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Phenotypic Variability in Gap Junction Syndromic Skin Disorders: Experience from KID and Clouston Syndromes’ Clinical Diagnostics J Appl Genetics (2015) 56:329–337 DOI 10.1007/s13353-014-0266-1 HUMAN GENETICS • CASE REPORT Phenotypic variability in gap junction syndromic skin disorders: experience from KID and Clouston syndromes’ clinical diagnostics Anna Kutkowska-Kaźmierczak & Katarzyna Niepokój & Katarzyna Wertheim-Tysarowska & Aleksandra Giza & Maria Mordasewicz-Goliszewska & Jerzy Bal & Ewa Obersztyn Received: 3 February 2014 /Revised: 5 December 2014 /Accepted: 17 December 2014 /Published online: 10 January 2015 # The Author(s) 2015. This article is published with open access at Springerlink.com Abstract Connexins belong to the family of gap junction mutation in GJB6), who are the first reported patients proteins which enable direct cell-to-cell communication of Polish origin suffering from this disorder. Phenotype by forming channels in adjacent cells. Mutations in diversity among patients with the same genotypes report- connexin genes cause a variety of human diseases and, ed to date is also summarized. The conclusion is that in a few cases, result in skin disorders. There are signif- proper diagnosis of these syndromes is still challenging icant differences in the clinical picture of two rare auto- and should always be followed by molecular verification. somal dominant syndromes: keratitis–ichthyosis–deafness (KID) syndrome and hidrotic ectodermal dysplasia Keywords Keratitis–ichthyosis–deafness syndrome . KID . (Clouston syndrome), which are caused by GJB2 and Hidrotic ectodermal dysplasia . Clouston syndrome . GJB6 mutations, respectively. This is despite the fact GJB2 . GJB6 that, in both cases, malfunctioning of the same family proteins and some overlapping clinical features (nail dystrophy, hair loss, and palmoplantar keratoderma) is observed. KID syndrome is characterized by progressive Introduction vascularizing keratitis, ichthyosiform erythrokeratoderma, and neurosensory hearing loss, whereas Clouston syn- Two rare congenital disorders, keratitis–ichthyosis–deafness drome is characterized by nail dystrophy, hypotrichosis, (KID) syndrome [OMIM 148210] and Clouston syndrome and palmoplantar keratoderma. The present paper pre- (hidrotic ectodermal dysplasia 2) [OMIM 129500], are caused sents a Polish patient with sporadic KID syndrome by mutations in genes coding connexin proteins (GJB2 and caused by the mutation of p.Asp50Asn in GJB2.The GJB6, respectively), and both of them have skin patient encountered difficulties in obtaining a correct manifestation. diagnosis. The other case presented is that of a family Despite the malfunctioning of proteins from the same with Clouston syndrome (caused by p.Gly11Arg family and some overlapping of such clinical features as nail dystrophy, hair loss, and palmoplantar keratoderma, the clin- ical picture of these syndromes differs significantly. Communicated by: Michal Witt KID syndrome is a very rare congenital autosomal domi- nant disorder of keratinization with abnormal differentiation ź * : : A. Kutkowska-Ka mierczak ( ) K. Niepokój of the epidermis and aberrant formation of the cornified layer. K. Wertheim-Tysarowska : A. Giza : J. Bal : E. Obersztyn Department of Medical Genetics, The Institute of Mother and Child, The illness is characterized by progressive vascularizing ker- ul.Kasprzaka 17a, 01-211 Warsaw, Poland atitis, ichthyosiform erythrokeratoderma, and neurosensory e-mail: [email protected] hearing loss. Most patients with KID syndrome are sporadic; only about M. Mordasewicz-Goliszewska One Day Pediatric Department, The Institute of Mother and Child, 100 have been reported so far. The syndrome was first de- Warsaw, Poland scribed in 1915 by Frederick S. Burns in a 16-year-old boy 330 J Appl Genetics (2015) 56:329–337 with congenital atypical ichthyosiform erythrokeratoderma, Clinical reports palmoplantar keratosis, and sensorineural hearing loss (Burns 1915). The term “KID syndrome” was later introduced as an Patient 1 acronym of the first letters of the main clinical symptoms. There are, however, arguments that this acronym does not The proband is the first and only child of nonconsanguineous define the disorder precisely; for example, changes in the skin parents. He was born at 35 weeks of gestation after pregnancy are not ichthyosis but ichthyosis-like erythrokeratoderma, and complicated by the mother’s hypertension and a herpes sim- keratitis can be absent at the onset of the illness (Skinner et al. plex infection. His birth weight was 2,630 g (25th–50th 1981). centile), length 51 cm (95th centile), head circumference Clouston syndrome, or hidrotic ectodermal dysplasia, 32 cm (25th–50th centile), the Apgar score was 6 points in is another autosomal dominant rare disorder character- the 1st minute and 8 points in the 5th minute. The audiologic ized by nail dystrophy, hypotrichosis, and palmoplantar screening after birth revealed deafness. He was noted to have keratoderma. The clinical expression can vary, but nails generally hyperkeratotic skin, especially thick on the back, are predominantly affected. They are thick, hyperplastic, and congenital ichthyosis was suspected. In the second week, and deformed with onycholysis. Hair is dry, fine, and a very thick hyperkeratotic layer of the skin on the back was brittle, and may be absent from the scalp, axillary, and removed by the parents during his bath. Histopathologic in- pubic region. Moderate to severe hyperkeratosis is often vestigation of skin biopsy did not confirm ichthyosis. The next present, with reduced keratinocytes desquamation (Kibar suspected disease was Netherton syndrome, but the patient’s et al. 1996). Sweating and the teeth are normal (Hassed hair evaluation did not reveal bamboo hair, which is typical for et al. 1996). this syndrome. Menkes syndrome was also considered in the Two cases are described in the present paper: that of a differential diagnosis elsewhere. Polish patient with sporadic KID syndrome who encountered The boy was examined for the first time in the Genetics difficulties in obtaining a correct diagnosis and a family with Department of the Institute of Mother and Child in Warsaw Clouston syndrome who are the first reported patients of (Poland) in the 4th year of his life (Fig. 1). He had hyperker- Polish origin. atotic skin all over the body but especially over his joints, Fig 1 Phenotype characteristics of patient 1: a, d wart-like hyperkeratotic plaques on an erythematous base on the cheek, ears, and chin; b reticulated hyperkeratosis on the hands with normal nails; c hyperkeratotic skin over elbow; e acanthosis nigricans in the axillary region and around the nipple J Appl Genetics (2015) 56:329–337 331 reticulated hyperkeratosis on the hands and feet, with normal but the hair, eyebrows, and eyelashes were normal (Fig. 2). nails. Wart-like hyperkeratotic plaques on an erythematous His head circumference was within the normal range. Cerebral base, which were initially interpreted as ichthyotic but, in fact, ultrasound at the age of 6 months was described as normal and turned out to be ichthyosis-like erythrokeratoderma, were the psychomotor development of this child at the age of 4 years symmetrically located on the cheeks, ears, and chin. He also was normal. had deep furrows around the mouth and eyes. Eyebrows, eyelashes, and body hair were absent. His scalp hair was stiff Patient 3 and dry. Acanthosis nigricans in the axillary and inner elbow regions and also around the nipples was observed. The patient The patient was the 30-year-old father of patient 2 who had manifested sensorineural hearing loss, photophobia, never been diagnosed previously. He had partial alopecia and hypohidrosis, and increased susceptibility to cutaneous infec- sparse eyebrows and eyelashes. His nails were thickened and tions. His dentition was regular. Ophthalmologic examination dysplastic, with subungual hyperkeratosis, severe curvature, at the age of 5 years did not reveal keratitis. Somatic and and yellow discoloration. The skin of his palms and soles was psychomotor development was normal. The diagnosis of KID hyperkeratotic and mildly hyperpigmented on the joints. syndrome was suggested. Sweating and teeth were normal. The patient had normal eyebrows and eyelashes in his early childhood, and then he Patient 2 lost them. Progressive hair loss began after the age of 22 years. Several members of this family were also affected (his brother, The proband is the first and only child of nonconsanguineous mother, and uncle) (Fig. 3). His mother has similar signs, apart parents. He was born at 41 weeks of gestation after an un- from hair, which was present (it was, however, always sparse). complicated pregnancy. His birth weight was 3,820 g (75th The diagnosis of familial Clouston syndrome was suggested. centile), length 56 cm (>95th centile), head circumference 32 cm (5th centile), the Apgar score was 9 points in the 1st minute. and 10 points in the 3rd minute. At the age of 8 months, he was admitted to the Genetic Counseling Depart- Methods ment of the Institute of Mother and Child in Warsaw because of hypotonia and retardation in motor development. Physical In the three patients described herein, DNA was isolated from examination showed dysplastic nails of the fingers and toes, peripheral blood leukocytes using Genomic Maxi AX (A&A Fig. 2 Phenotype characteristics of patients 2, a, b dysplastic nails and toes, and 3, c thickened, dysplastic nails, d plantar hyperkeratosis, d partial alopecia, sparse eyebrows and eyelashes, normal teeth 332 J Appl Genetics (2015) 56:329–337 Fig. 3 Pedigree of the family of patients
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