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Clinical Vignette Hystrix-Like Ichthyosis and Deafness Syndrome in A Clinical Vignette Hystrix-like Ichthyosis and Deafness Syndrome in a Toddler Kanika Singh1, Renu Saxena1, Rishi Parashar2, Sunita Bijarnia-Mahay1 1Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi ∗ 2Department of Dermatology, Sir Ganga Ram Hospital, New Delhi Correspondence to: Dr Sunita Bijarnia-Mahay Email: [email protected] Abstract deafness which is seen in the HID syndrome. About 100 cases of HID have been reported to Hystrix-like ichthyosis and deafness (HID) date in literature (Avshalumova et al., 2014). Here syndrome is characterized by ichthyosis, we present a rare case of the HID syndrome. erythrokeratoderma, alopecia and deafness in varying degrees of severity. The clinical Case Report manifestations are present since birth, evolve and gradually worsen. It occurs due to a single known The patient is a 17-month-old girl born to non mutation in the GJB2 gene. Early diagnosis and consanguineous parents. She was born preterm at management and genetic counseling require a 36 weeks of gestation, appropriate for gestation high index of suspicion for an underlying genetic with a birth weight of 2.5 kg. She had required basis in such skin disorders. admission in the neonatal intensive care unit (NICU) for 4 weeks in view of respiratory distress. Introduction Soon after birth she developed redness and peeling of the skin involving the face, arms, trunk Hystrix-like ichthyosis and deafness (HID) and dorsum of hands and feet which persisted at syndrome (OMIM#602540) was first described the time of discharge (Figures 1A and 1B). She was in a patient in 1977 who presented with treated for congenital pneumonia and seborrheic icthyosis-hystrix and bilateral hearing loss dermatitis during her NICU stay. However, the skin (Schnyder et al., 1977). Its initial name was lesions were persistent and difficult to treat. ‘ichthyosis hystrix gravior, type Rheydt’ after the She received multiple courses of topical steroids, city of origin of the patient, located near antifungal and antibiotic ointments in view of Dusseldorf, Germany, with the word ‘hystrix’ a possibility of seborrheic dermatitis or atopic indicating spiky porcupine-like skin changes dermatitis along with recurrent skin infections. [Konig et al., 1997]. Traupe H suggested Over a period of time, she developed diffuse including deafness in the nomenclature, naming thickening of the skin and hyperkeratotic plaques it hystrix-like ichthyosis with deafness, or HID over the arms and legs. The eyebrows were absent syndrome (Traupe, 1989). The molecular basis and hair on the scalp and body was sparse of the HID syndrome has been found to be and lightly pigmented (Figure 1C). There was a heterozygous pathogenic variant (p.Asp50Asn) relative sparing of the skin of the palms and in the GJB2 gene. Pathogenic variants in GJB2 soles. A lack of sweating was also observed. are more commonly known to cause non There was no significant developmental delay. Eye syndromic deafness [autosomal recessive (AR) or evaluation did not reveal any significant finding. autosomal dominant (AD)]. A phenotypic variant Her immunoglobulin profile and blood counts to the HID syndrome is the keratitis icthyosis were normal. The patient was the sole affected deafness (KID) syndrome. KID syndrome patients family member and the only child, with an ongoing have keratitis (inflammation of the cornea) that pregnancy in the mother. The family desired a can cause photophobia, scarring and vision loss. definitive diagnosis for the child and genetic They also have palmoplantar keratoderma in counseling for the ongoing pregnancy. With a addition to erythrokeratoderma, ichthyosis and possibility of congenital ichthyotic disorder or Genetic Clinics 2021 | January - March | Vol 14 | Issue 1 6 Clinical Vignette A C B Figure 1 Clinical photographs of the child, in the neonatal period (A, B) showing facial rash and alopecia, and at 18-months of age (C) showing slight skin rash, and ichthyosis especially on dorsum of hands. ectodermal dysplasia further definitive genetic treatment. They were advised to discuss the need testing was planned. Next generation sequencing, for hearing aid or cochlear implant in the future, for genes related to ichthyosis related disorders with an otolaryngologist. revealed the heterozygous pathogenic variant c.148G>A (p.Asp50Asn/ p.D50N) in the GJB2 gene, which has been previously reported with Discussion HID syndrome. Although the parents did not complain of any significant hearing impairment in HID is a genetic disorder occurring due to a the child, and her speech appeared appropriate mutation in the GJB2 gene, which belongs to the for age, a formal hearing test (auditory steady family of gap junction proteins. Connexin 26 is a state responses) showed mild to moderate and 225- amino acid- long protein encoded by the GJB2 moderately profound to severe hearing loss in the gene located on chromosome 13. Gap junction right and left ear, respectively. Sanger sequencing channels are made from a family of proteins called further confirmed the presence of the mutation in connexins. Their main function is to allow passage the child. It was noted to be a de-novo mutation as of small molecules between adjacent cells, it was not present in the parents (Figure 2). This coupling them both metabolically and electrically. confirmed the overall low risk of recurrence for The function of the various connexin channels is the ongoing pregnancy (~1% due to gonadal distinct in terms of their gating, conductance and mosaicism). The parents chose against prenatal permeability characteristics (Avshalumova et al., testing of the fetus and continued the pregnancy. 2014). Connexin 26 is involved in intercellular For the affected child, the parents were provided communication and differentiation of cells in the with appropriate dermatological referral and epithelium of cornea, cochlea, palmoplantar antikeratolytic, antibiotic and emollient topical epidermis, hair and sweat glands. The GJB2 Genetic Clinics 2021 | January - March | Vol 14 | Issue 1 7 Clinical Vignette a. Child b. Mother c. Father Figure 2 Sanger sequencing analysis of GJB2 gene (A) child heterozygous for the c.148G>A variant; (B & C) Mother and father negative for the c.148G>A variant. gene has been more commonly implicated make up the second group. HID manifests shortly with non-syndromic deafness, both autosomal after birth with erythematous patches. By the age recessive and autosomal dominant types. It has of 1 year, spiky and cobblestone-like greyish been identified as the most common cause of brown to red hyperkeratotic masses involve the non-syndromic deafness – DFNB1 accounting for entire skin including the scalp and face. The up to 50% of congenital severe-to-profound palms and soles are usually mildly affected. autosomal recessive non-syndromic hearing loss Scarring alopecia can also occur. Histopathologic in many countries (Smith et al., 2016). features resemble those of lamellar ichthyosis GJB2 has also been studied to cause five with reduction of tonofibrils and abundance of syndromic forms of deafness that include skin mucous granules and are not diagnostic. There is disease. The syndromic deafness disorders associated bilateral neurosensory hearing loss. are very rare, and can be divided into Our patient had all the clinical characteristics of two broad groups. The first group includes HID syndrome. Bart-Pumphrey syndrome, Vohwinkel syndrome, HID and KID are identical at the molecular and Palmoplantar keratoderma with deafness, level and the difference is mainly clinical. Some presenting with palmoplantar keratoderma along basic differences between the two are: KID can with deafness. Specifically, patients with the present at birth in the form of hyperkeratotic Bart-Pumphrey have nail involvement in the form erythroderma which resolves spontaneously only of leukonychia and growth on the knuckle pads to recur later but never involves the trunk. Scaling while, constriction bands and auto amputation typical of ichthyosis (seen in HID) is not seen, so it have been reported in the Vohwinkel syndrome is not a true ichthyosis. In addition, palms and (Srinivas et al., 2018). soles are severely affected and eye manifestations Hystrix-like ichthyosis deafness syndrome (HID) are typically seen in KID, although few case reports and keratitis ichthyosis deafness (KID) syndrome have mentioned mild keratitis in patients of HID Genetic Clinics 2021 | January - March | Vol 14 | Issue 1 8 Clinical Vignette (Van Geel at al., 2002; Avshalumova et al., 2014). symptom of hearing loss in our patient, which Both AD (GJB2 gene) and AR (AP1B1 gene) types of may have gone unnoticed until significant speech KID are known (Boyden et al., 2019). In the AD impairment might have appeared. variety of KID, the p.Asp50Asn accounts for ~80% Although this is an autosomal dominant of mutations but other mutations have also been disorder, one study reported 64% of cases to be described. KID also has increased morbidity and sporadic while 36% cases were familial, many chance for disfigurement along with the risk with unaffected parents (Mazereeuw-Hautier et al., for squamous cell carcinoma (SCC) as compared 2007). Hence, germline mosaicism is high for this to HID which generally has a good prognosis. disorder, like most skin disorders and this is a KID is the only connexin-related skin disorder challenging point in counselling. described with SCC. HID begins as erythematous Acknowledgements: The authors thank the patches soon after birth and evolves to ichthyosis parents of the child for their participation, and involving the scalp and face. Palms and soles are colleagues for their guidance. less affected (differentiating it from KID). Amild punctate keratitis has also been described in some HID patients. There is only one known mutation for HID (p.Asp50Asn). The electron References microscopy features are now known to not be 1. Avshalumova L, et al. Overview of skin diseases diagnostic for either disorder, contrary to the linked to connexin gene mutations. Int J previous notion, and include excess formation Dermatol 2014;53:192–205. of mucous-containing granules and reduction of 2.
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