Abnormalities of Skin and Cutaneous Appendages in Neuromuscular Disorders

Finsterer, Josef; Wakil, Salma M.

doi:10.1016/j.pediatrneurol.2015.03.005

Cited by 6 publications

(3 citation statements)

References 60 publications

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“…Disorders of both the peripheral nervous system and neuroendocrine system are associated with cutaneous manifestations, such as the typical oily skin observed with excess growth hormone (GH) secretion, or the muco‐cutaneous pigmentation characteristic of adrenal insufficiency in Addison's disease (AD) (Eedy, ; Paus, 2016 b ). Long‐recognised clinical observations such as these highlight the importance of the nervous system in the regulation of human skin physiology and pathology: a subject of increasing interest in both clinical and experimental dermatology (Slominski & Wortsman, ; Paus, Theoharides & Arck, ; Misery et al ., ; Finsterer & Wakil, ; Leventhal & Braverman, ; Paus, 2016 a ). Yet, in this context, a key appendage of mammalian skin, the sebaceous gland (SG), remains incompletely explored.…”

Section: Relevance Of the Brain–sebaceous Gland Axis To Skin Physiolomentioning

confidence: 99%

Neuroendocrinology and neurobiology of sebaceous glands

et al. 2020

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The nervous system communicates with peripheral tissues through nerve fibres and the systemic release of hypothalamic and pituitary neurohormones. Communication between the nervous system and the largest human organ, skin, has traditionally received little attention. In particular, the neuro-regulation of sebaceous glands (SGs), a major skin appendage, is rarely considered. Yet, it is clear that the SG is under stringent pituitary control, and forms a fascinating, clinically relevant peripheral target organ in which to study the neuroendocrine and neural regulation of epithelia. Sebum, the major secretory product of the SG, is composed of a complex mixture of lipids resulting from the holocrine secretion of specialised epithelial cells (sebocytes). It is indicative of a role of the neuroendocrine system in SG function that excess circulating levels of growth hormone, thyroxine or prolactin result in increased sebum production (seborrhoea). Conversely, growth hormone deficiency, hypothyroidism, and adrenal insufficiency result in reduced sebum production and dry skin. Furthermore, the androgen sensitivity of SGs appears to be under neuroendocrine control, as hypophysectomy (removal of the pituitary) renders SGs largely insensitive to stimulation by testosterone, which is crucial for maintaining SG homeostasis. However, several neurohormones, such as adrenocorticotropic hormone and α-melanocyte-stimulating hormone, can stimulate sebum production independently of either the testes or the adrenal glands, further underscoring the importance of neuroendocrine control in SG biology. Moreover, sebocytes synthesise several neurohormones and express their receptors, suggestive of the presence of neuro-autocrine mechanisms of sebocyte modulation. Aside from the neuroendocrine system, it is conceivable that secretion of neuropeptides and neurotransmitters from cutaneous nerve endings may also act on sebocytes or their progenitors, given that the skin is richly innervated. However, to date, the neural controls of SG development and function remain poorly investigated and incompletely understood. Botulinum toxin-mediated or facial paresis-associated reduction of human sebum secretion suggests that cutaneous nerve-derived substances modulate lipid and inflammatory cytokine synthesis by sebocytes, possibly implicating the nervous system in acne pathogenesis. Additionally, evidence suggests that cutaneous denervation in mice alters the expression of key regulators of SG homeostasis. In this review, we examine the current evidence regarding neuroendocrine and neurobiological regulation of human SG function in physiology and pathology. We further call attention to this line of research as an instructive model for probing and therapeutically manipulating the mechanistic links between the nervous system and mammalian skin.

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Section: Relevance Of the Brain–sebaceous Gland Axis To Skin Physiolomentioning

confidence: 99%

Neuroendocrinology and neurobiology of sebaceous glands

et al. 2020

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“…The organs most frequently affected are the muscle, the central nervous system (CNS), the endocrine glands, the eyes, the ears, and the heart [Finsterer and Bastovansky, 2015]. More rarely affected are the kidneys, gastrointestinal (GI) tract, bone marrow, arteries, bones, lungs, and the skin [Finsterer and Wakil, 2015]. GI compromise may be due to an intestinal or extra-intestinal cause.…”

Section: Introductionmentioning

confidence: 99%

Gastrointestinal manifestations of mitochondrial disorders: a systematic review

Finsterer

Frank

2016

Therap Adv Gastroenterol

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Mitochondrial disorders (MIDs) due to respiratory-chain defects or nonrespiratory chain defects are usually multisystem conditions [mitochondrial multiorgan disorder syndrome (MIMODS)] affecting the central nervous system (CNS), peripheral nervous system, eyes, ears, endocrine organs, heart, kidneys, bone marrow, lungs, arteries, and also the intestinal tract. Frequent gastrointestinal (GI) manifestations of MIDs include poor appetite, gastroesophageal sphincter dysfunction, constipation, dysphagia, vomiting, gastroparesis, GI pseudo-obstruction, diarrhea, or pancreatitis and hepatopathy. Rare GI manifestations of MIDs include dry mouth, paradontosis, tracheoesophageal fistula, stenosis of the duodeno-jejunal junction, atresia or imperforate anus, liver cysts, pancreas lipomatosis, pancreatic cysts, congenital stenosis or obstruction of the GI tract, recurrent bowel perforations with intra-abdominal abscesses, postprandial abdominal pain, diverticulosis, or pneumatosis coli. Diagnosing GI involvement in MIDs is not at variance from diagnosing GI disorders due to other causes. Treatment of mitochondrial GI disease includes noninvasive or invasive measures. Therapy is usually symptomatic. Only for myo-neuro-gastro-intestinal encephalopathy is a causal therapy with autologous stem-cell transplantation available. It is concluded that GI manifestations of MIDs are more widespread than so far anticipated and that they must be recognized as early as possible to initiate appropriate diagnostic work-up and avoid any mitochondrion-toxic treatment.

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“…A-F. Skin manifestations with rashes and blisters on the trunk, proximal and distal extremities neuromuscular diseases and in SLONM as well [11]. However, the cases described in relation to SLONM have been observed in the context of another autoimmune comorbidity, for example SLE [12], or Sjögren [13] syndrome.…”

Section: Discussionmentioning

confidence: 99%

Sporadic late onset nemaline myopathy with concurrent dermatological symptoms responding to immunosuppressive treatment

et al. 2023

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Background Sporadic late onset nemaline myopathy is a rare, progressive muscle disease, presenting in adulthood, mainly affecting proximal limb and bulbar muscles. Muscle biopsies show characteristic nemaline rods. The putative mechanism is considered immune-related. Other manifestations aside from neuromuscular symptoms have not been described previously. Case presentation We present a case with atypical sporadic late onset nemaline myopathy (SLONM) of a non-HIV, non-MGUS subtype, where skin manifestations preceded neuromuscular symptoms, and a residual thymus with the histology of thymic follicular hyperplasia was detected during the diagnostic workup. Thorough dermatological investigations could not explain the skin presentations. Muscle biopsy revealed variation in fiber diameter, ragged-red and COX-negative fibers associated with discrete fibrosis. Electron microscopy detected atrophic muscle fibres with disorganization of the myofibrils, nemaline rods and abnormal mitochondria. Single-fiber EMG suggested signs of a neuromuscular transmission defect, EMG showed signs of myopathy. Analyses of antibodies associated with myasthenia gravis were negative. The patient showed improvement after intravenous immunoglobulin treatment regarding both the skin and the muscle symptoms. Conclusions Our case highlights the heterogeneity of SLONM with its varied spectrum of presentation. A unique combination of dermatological symptoms and SLONM could be seen with skin lesions as primary presenting symptoms. An association can be considered between the different manifestations, presumably based on immune etiology, where immunosuppressive therapy has been beneficial.

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Abnormalities of Skin and Cutaneous Appendages in Neuromuscular Disorders

Cited by 6 publications

References 60 publications

Neuroendocrinology and neurobiology of sebaceous glands

Neuroendocrinology and neurobiology of sebaceous glands

Gastrointestinal manifestations of mitochondrial disorders: a systematic review

Sporadic late onset nemaline myopathy with concurrent dermatological symptoms responding to immunosuppressive treatment

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