Isotretinoin treatment of autosomal recessive congenital ichthyosis complicated by coexisting dysferlinopathy

Mashiah, Jacob; Harel, Avikam; Bitterman, Ora; Sagi, Liora; Gat, Andrea; Fellig, Yakov; Ben‐Shachar, Shay; Sprecher, Eli

doi:10.1111/ced.12774

Cited by 5 publications

(4 citation statements)

References 10 publications

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“…A majority of the case reports noted that elevated creatine kinase levels occurred in the setting of concurrent exercise/activity or had an additional instigator (i.e. ischemia, inherited myopathy) . Theoretically, the litany of elevated CK etiologies may also serve as second‐hit factors, though such events have yet to be reported (Table ) .…”

Section: Discussionmentioning

confidence: 99%

“…Between 1983 and 2016, there were seven reported cases of symptomatic elevations in CK on isotretinoin, five of which resulted in rhabdomyolysis . Six of these cases had a notable additional factor (five precipitated by weight lifting; one had an autosomal recessive myopathy) . These individuals had a max serum CK 801–66,000 IU/l and developed fatigue, generalized muscle pain, and weakness while two additionally had myoglobinuria .…”

Section: Introductionmentioning

confidence: 99%

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The creatine kinase conundrum: a reappraisal of the association of isotretinoin, creatine kinase, and rhabdomyolysis

Marson

Baldwin

2019

Int J Dermatology

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Background Isotretinoin has been reported to elevate creatine kinase, which may lead to fatal rhabdomyolysis.Objective To review the literature and propose practice guidelines for management of elevated creatine kinase during isotretinoin therapy.Findings Patients have intrinsic and extrinsic qualities that may synergistically work with isotretinoin to elevate serum creatine kinase. Darker skin types and males on isotretinoin are more likely to have elevated creatine kinase. Isotretinoin may induce oxidative stress within muscle tissue, thereby leading to elevations in serum creatine kinase.Conclusion Evidence supports a tenuous correlation between isotretinoin, elevated creatine kinase, and exercise. Physicians should consider obtaining baseline creatine kinase on elite athletes and counseling patients on risk factors that may elevate creatine kinase. However, the potential for elevated CK is not a contraindication for isotretinoin therapy. Capsule Summary• Since 1982 there have been multiple reports of patients who had elevated creatine kinase levels during their course of isotretinoin, mostly with concurrent exercise.• Physicians should consider obtaining baseline creatine kinase in elite athletes and counseling patients that vigorous exercise and male gender are associated with elevated creatine kinase.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

The creatine kinase conundrum: a reappraisal of the association of isotretinoin, creatine kinase, and rhabdomyolysis

Marson

Baldwin

2019

Int J Dermatology

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“…1, see Table , Supplemental Digital Content A.2 , http://links.lww.com/JCND/A58). 12–142 Included data were primarily derived from case reports (n = 74), although patient-level data were also commonly available from retrospective (n = 22) and prospective (n = 18) studies. Of studies reporting a geographic location, over 35 countries were represented, with the most studies conducted in the United States (n = 14) and Germany (n = 13).…”

Section: Resultsmentioning

confidence: 99%

Patterns of Clinical Progression Among Patients With Autosomal Recessive Limb-Girdle Muscular Dystrophy: A Systematic Review

Cheung,

Audhya,

Szabo

et al. 2023

Journal of Clinical Neuromuscular Disease

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Objectives: As the clinical course of autosomal recessive limb–girdle muscular dystrophy (LGMDR) is highly variable, this study characterized the frequency of loss of ambulation (LOA) among patients by subtype (LGMDR1, LGMDR2, LGMDR3–6, LGMDR9, LGMDR12) and progression to cardiac and respiratory involvement among those with and without LOA. Methods: Systematic literature review. Results: From 2929 abstracts screened, 418 patients were identified with ambulatory status data (LOA: 265 [63.4%]). Cardiac and/or respiratory function was reported for 142 patients (34.0%; all with LOA). Among these, respiratory involvement was most frequent in LGMDR3–6 (74.1%; mean [SD] age 23.9 [11.0] years) and cardiac in LGMDR9 (73.3%; mean [SD] age 23.7 [17.7] years). Involvement was less common in patients without LOA except in LGMDR9 (71.4% respiratory and 52.4% cardiac). Conclusions: This study described the co-occurrence of LOA, cardiac, and respiratory involvement in LGMDR and provides greater understanding of the clinical progression of LGMDR.

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“…However, this protein encodes a skeletal muscle protein found associated with the sarcolemma related to muscular dystrophy. There are reports of patients with ichthyosis and dysferlinopathy, but only the last disease is related to DYSF gene [33].…”

Section: Discussionmentioning

confidence: 99%

Ichthyosis: case report in a Colombian man with genetic alterations in ABCA12 and HRNR genes

et al. 2021

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Background Ichthyosis is a heterogeneous group of diseases caused by genetic disorders related to skin formation. They are characterized by generalized dry skin, scaling, hyperkeratosis and frequently associated with erythroderma. Among its different types, harlequin ichthyosis (HI) stands out due to its severity. HI is caused by mutations in the ABCA12 gene, which encodes essential proteins in epidermal lipid transport, and it helps maintain the homeostasis of the stratum corneum of the epidermis. However, due to the wide spectrum of genetic alterations that can cause ichthyosis, holistic medical care, and genetic studies are required to improve the diagnosis and outcomes of these diseases. Case presentation Here, we presented the case of a 19 years old male patient who was a premature infant and exhibited clinical features consistent with HI, including bright yellow hyperkeratotic plates with erythematous fissures that covered his entire body like a collodion baby. Currently, he exhibited erythroderma, photosensitivity, ectropion, auricular pavilion alterations, and musculoskeletal disorders, such as equinovarus feet, fingers, hands, and hypoplastic feet with contractures in flexion and marked difficulty in fine motor skills. In addition, he presented dyschromatopsia, Achilles reflex hyporeflexia, slight speech, dental alteration and deficient cognitive performance. After the genetic sequencing, variants were found in ABCA12 and HRNR which are related to several skin diseases, including ichthyosis. Conclusions Although in clinical practice, ichthyosis is a common entity, a severe type of ichthyosis is presented, highlighting the importance of appropriate genetic diagnosis, given the broad spectrum of genetic alterations with similar phenotypic and clinical characteristics. These pathologies must be known to guarantee initial support measures to prevent complications and offer multidisciplinary management to those patients.

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Isotretinoin treatment of autosomal recessive congenital ichthyosis complicated by coexisting dysferlinopathy

Cited by 5 publications

References 10 publications

The creatine kinase conundrum: a reappraisal of the association of isotretinoin, creatine kinase, and rhabdomyolysis

The creatine kinase conundrum: a reappraisal of the association of isotretinoin, creatine kinase, and rhabdomyolysis

Patterns of Clinical Progression Among Patients With Autosomal Recessive Limb-Girdle Muscular Dystrophy: A Systematic Review

Ichthyosis: case report in a Colombian man with genetic alterations in ABCA12 and HRNR genes

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