Cutaneous lesions and mitochondrial hearing loss: A case report

Abstract

Pathogenic sequence changes in mitochondrial DNA (mtDNA) are one of the most common causes of genetic hearing loss. We report an infant with palmoplantar hyperkeratosis, extrapalmoplantar cutaneous features and mitochondrial sensorineural hearing loss caused by the previously reported pathogenic NC_012920: m.7445A > G sequence change in the mitochondrial gene COX1 (COX1, MT-CO1).Next generation sequencing-based technology was key for the diagnosis and management of this patient.

Next-generation sequencing improves precision medicine in hearing loss

“…Family #F3. A previously reported homplasmic pathogenic sequence change in the mitochondrial mitCOX1 (also known as MT-CO1 gene; NC_012920: m.7445A>G ( Martin et al, 2000 ) was identified in a 1-year-old infant with sensorineural hearing loss, palmoplantar keratosis and other extra palmoplantar cutaneous features further described in an already published case report ( Moreno-Artero et al, 2022 ) (#P47 in Table 2 ). Her mother also presented with severe-to-profound bilateral hearing loss since childhood, and she got cochlear implants in both ears.…”

Respiratory chain defects require prospective work‐up for clinical and subclinical multisystem involvement

“…There is no mention of whether the patient received antioxidants, vitamins or co‐factors (mitochondrial cocktail) in addition to oral nystatin, topical miconazole, topical corticosteroids and topical application of emollients and pimecrolimus 1 . Since MiDs occasionally respond positively to mitochondrial cocktails, 2 such a therapy could show an additional beneficial effect.…”

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I read with interest the article by Moreno-Artero et al on a 13-monthold female with a mitochondrial disorder (MiD), phenotypically manifesting with hypoacusis, palmoplantar keratoderma (PPK), scaly plaques, and perioral erythema due to the mtDNA variant m.7445A > G in MT-CO1. 1 The authors concluded that diagnosis, management, and counseling of patients with impaired hearing is facilitated by genetic workup with next generation sequencing (NGS). The study is excellent but has limitations that raise concerns and should be discussed.

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“…There is no mention of whether the patient received antioxidants, vitamins or co-factors (mitochondrial cocktail) in addition to oral nystatin, topical miconazole, topical corticosteroids and topical application of emollients and pimecrolimus. 1 Since MiDs occasionally respond positively to mitochondrial cocktails, 2 such a therapy could show an additional beneficial effect. Skin involvement in MiDs has been repeatedly reported in patients carrying mtDNA variants other than m.7445A > G and includes a plethora of dermatological signs, such as jaundice, acrocyanosis, hyperpigmentation, atrophy in skin folds, pruritus, diffuse erythema, hypertrichosis, neutrophilic dermatitis, thickened arrector muscles, and dermal hemorrhages, among others.…”