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Lipoid proteinosis

Lipoid proteinosis
Literature review current through: Jan 2024.
This topic last updated: Aug 10, 2023.

INTRODUCTION — Lipoid proteinosis (LP; MIM #247100), also known as Urbach-Wiethe disease or hyalinosis cutis et mucosae, is a rare autosomal recessive genodermatosis characterized by persistent voice hoarseness in infancy and accompanied by skin changes, such as fragility, discomfort, infiltrated papules and/or nodules over the skin, and mucosae [1]. Affected individuals may also present with neurologic and psychiatric symptoms [2]. The clinical manifestations result from the deposition of a hyaline material in the mucosae, skin, and brain tissue. LP is caused by variants in the extracellular matrix protein gene (ECM1), located on chromosome 1q21.2 [3].

This topic will review the genetics, pathogenesis, clinical features, and management of LP. Other causes of hoarseness in children are reviewed separately. (See "Hoarseness in children: Evaluation".)

EPIDEMIOLOGY — Lipoid proteinosis (LP) is an exceedingly rare disease, with less than 500 cases reported in the literature [2]. LP affects males and females equally [3]. LP is present worldwide, although it has been reported with a higher frequency in the Northern Cape province of South Africa, including Namaqualand, owing to a common founder effect. The disease has been traced to a common German ancestor who settled in South Africa in the mid-17th century [4]. Fifty-one cases of LP were reported from India [5].

GENETICS AND PATHOGENESIS — Lipoid proteinosis (LP) is an autosomal recessive genodermatosis caused by variants in the extracellular matrix protein gene (ECM1), located on chromosome 1q21.2 [3]. Heterozygous carriers, estimated to be 1 in 400 of the general population, are asymptomatic [2]. Over 50 loss-of-function variants, predominantly missense and nonsense variants, have been reported [6-8]. Variants in all 10 exons of the ECM1 gene have been reported, with the majority occurring in exons 6 and 7 [9]. Interestingly, in the largest group of patients with LP from the Namaqualand region of the Northern Cape of South Africa, a single nonsense variant in exon 7 (pQ276X) was found to be common to all the subjects studied [4] due to a founder effect.

The normally functioning ECM1 gene has four splice variants: ECM1a, which contains 10 exons; ECM1b, which lacks exon 7; and ECM1c and ECM1d, which give rise to a truncated 57 amino acid protein [10,11]. Exon 7 is not found in the ECM1b variant, and thus, variants in exon 7 will still yield a normal ECM1b protein. Therefore, it was thought that variants in exon 7 would carry a better prognosis compared with variants in other exons [7,8]. However, it has been shown that there are no significant differences in the severity of the mucosal, cutaneous, neurologic, and neuropsychologic features that correlate with any particular variant [7].

ECM1 is an extracellular protein that has been implicated in endochondral bone formation, angiogenesis, and tumor biology [12]. ECM1 seems to have an essential structural role in the skin and acts by interacting with a number of scaffolding proteins, such as the laminin 332 beta 3 chain and fibulin-3 [12]. Moreover, ECM1 inhibits the activity of matrix metalloproteinase-9 (MMP-9) through the interaction with the C-terminal second tandem repeat (exon 7) of ECM1 [13]. Thus, a decrease in ECM1 causes an increase in MMP-9 activity, which contributes to the hyaline changes seen in LP [13]. This may be of particular importance in the pathogenesis of the neurologic changes seen in LP [13].

A number of alterations pertaining to the architecture of the skin microvasculature, such as increased thickness of the basement membrane surrounding dermal blood vessels, have been described in LP [14,15]. Additional gross anomalies of the normal dermal vascular architecture include the presence of enlarged vessels that are orientated parallel to the dermal-epidermal junction as well as a loss of the normal papillary capillary loops [14]. In one study, lesional skin of a patient with LP was found to be lacking lymphatic tissue as compared with nonlesional skin in the same individual, leading to the hypothesis that a failure of lymphangiogenesis may contribute to the pathogenesis of the mucocutaneous findings in LP [15]. Moreover, a study showed that oxidative stress could play a role in the pathogenesis of LP [16].

CLINICAL MANIFESTATIONS

Mucocutaneous manifestations — The classic presenting symptom of lipoid proteinosis (LP) is a weak cry and a persistent hoarse voice during the first year of life that is caused by the deposition of hyaline material within the laryngeal mucosa. Infiltration of the oral mucosa during childhood results in stiffening of the frenulum and tongue, restricted protrusion of the tongue, and, possibly, discomfort (picture 1A) [3].

Other oral manifestations include thickened lips with fissuring at the commissures, as well as cobblestoning of the mucosa (picture 2) and gingival hypertrophy [17]. The finding of macroglossia with lateral crenation has been reported in LP (picture 1B) [18,19]. A review of the literature including 137 patients with oral manifestations showed that the most common site of oral involvement in patients with LP is the tongue (68 percent), followed by the floor of the mouth (55.8 percent), the lips (43 percent), and buccal mucosa (40 percent) [19]. The palate and the gingivae were rarely involved. Dental anomalies have been reported, albeit rarely [7,17].

The oropharynx may present infiltrated, waxy, yellowish papulonodules on examination [20]. Laryngeal involvement may very rarely cause stridor and breathing difficulties that can warrant treatment with a tracheostomy [21]. Recurrent obstruction of the parotid duct may cause parotitis [17].

Skin fragility may manifest in early childhood, resulting in spontaneous or trauma-induced development of vesicles and blisters over the face and extremities. These lesions heal with pox-like or acne-like scarring (picture 3) [4,22]. Typically, patients with LP develop beaded papules ("string of pearls") along the eyelid margins, known as moniliform blepharosis (picture 4A-B). Infiltration of the skin worsens with trauma and leads to verrucous, hyperkeratotic plaques over frictional areas, particularly over the knuckles, elbows, knees, buttocks, and axillae (picture 5) [4]. Other cutaneous manifestations include alopecia and palmoplantar hyperkeratosis [19,23].

Dermoscopic findings — Dermoscopic findings of cutaneous lesions seen in LP include sulci and gyri with pale white, structureless areas, as well as lesions with a "pulpy" or "pulp-like" appearance (picture 6) [24]. These features may be variably seen in LP lesions, depending on the lesions, but vary depending on the type and location of lesions.

Neurologic manifestations — Central nervous system involvement may be the predominant feature in LP, although the correct diagnosis may be elusive due to the lack of awareness of this rare condition [2,25]. Neuropsychiatric findings are highly variable and include seizures, migraine, schizophrenia, anxiety, panic attacks, impaired memory, and abnormal emotional responses to perceived danger and fear [2]. Symptoms may start during childhood or appear later in life. Early involvement of the face and buttocks in infancy has been suggested to be a predictor of neurologic manifestations later in life [23].

Dysfunction of the amygdala due to the presence of calcifications is thought to underlie most of the neuropsychiatric manifestations of LP (see 'Neuroimaging findings' below). The human amygdala comprises several distinct nuclei that differ in structure and function; the central-medial amygdala is instrumental in the execution of fear responses, whereas the basal, basolateral, and basomedial nuclei are involved in processing sensory information, including fear stimuli [26-28].

Manifestations due to dysfunction of the amygdala depend on the localization and extent of damage [29]. As an example, an extensively studied patient with complete bilateral amygdala calcification exhibited a loss of fear response to stimuli, such as snakes and spiders, and lack of emotional face recognition [27]. In contrast, patients with focal amygdala damage restricted to the basolateral nuclei exhibit a more hypervigilant response to fearful stimuli as well as a superior recognition of facial fear expression compared with control subjects [30,31].

Epilepsy is estimated to occur in approximately 30 percent of patients with LP [32,33]. In one of the largest case series from the Northern Cape province of South Africa, 5 out of 24 subjects reported seizures, among which 2 had classic temporal lobe epilepsy with an aura characterized by a sensation of déjà vu [4]. In a review of 41 cases of LP and epilepsy, 21 patients had bilateral amygdala calcification and an ictal semiology that was consistent with temporal lobe involvement; none of the 41 cases was reported to have ictal fear [32]. In a retrospective study that examined the characteristics, electroencephalographic findings, and imaging features of seven patients with LP and intracranial calcifications or epilepsy, four patients had epilepsy, with onset before 10 years of age in three [25]. Focal seizures characterized by a loss of awareness, little motor phenomena, and auras, including déjà vu and rising epigastric sensation, were the most common type of seizures. The majority of these patients had a drug-resistant epilepsy at 10 years of follow-up. (See "Focal epilepsy: Causes and clinical features".)

Neuroimaging findings — Intracranial horn-shaped mesiotemporal calcifications involving the amygdala, hippocampus, parahippocampal gyrus, and corpus striatum can be detected in patients with LP by computed tomography (CT) scan of the brain [34]. Calcifications of the amygdala are seen in approximately 50 percent of patients with LP and are considered a pathognomonic finding [32,35]. They range from complete (encompassing the basal, basolateral, and basomedial nuclei and the central-medial amygdala) to focal (eg, limited to basolateral nuclei) [26,27].

These intracranial calcifications are benign, yet progressive in nature, are more evident in adult patients, and may occur in the absence of neurologic manifestations [25,35].

Other extracutaneous manifestations — Other extracutaneous manifestations of LP, including ocular, otic, gastrointestinal, urogenital, and endocrine abnormalities, are summarized in the table (table 1) [36-38].

PATHOLOGY — Classic histopathologic findings of lesional skin reveal the prominent deposition of an eosinophilic, periodic acid-Schiff (PAS)-positive hyaline material in the papillary dermis as well as around the blood vessels (picture 7). The overlying epidermis may be acanthotic. A compact papillary dermis and fibrillar deposits in the mid-dermis can be seen on scanning electron microscopy. Transmission electron microscopy shows the deposition of clusters of cord-like, fibrillar material in the dermis between the collagen and the elastic fibers. This fibrillary material can also be seen within the cytoplasm of dermal fibroblasts [39].

A biopsy of the early vesicular lesions that occur in childhood and infancy reveals acantholytic keratinocytes within the epidermis with dilated intercellular spaces between keratinocytes [22]. Electron microscopy examination of these vesicular lesions shows "free-floating" desmosomes within the widened intercellular space and intact hemidesmosomes attached to the basal lamina [22].

DIAGNOSIS — A diagnosis of lipoid proteinosis (LP) should be suspected in an infant with a weak cry and persistent hoarseness in the first year of life. In older individuals, the diagnosis is suspected based on the presence of some or all of the following findings:

History of hoarseness and a weak cry since infancy, accompanied by a woody and enlarged tongue with limited protrusion (picture 1A)

Typical cutaneous findings of facial acneiform scars (picture 3), beaded papules on the eyelid margin (picture 4A-B), and verrucous plaques over areas of friction (picture 5)

A positive family history of LP and/or a history of parental consanguinity

Horn-shaped mesiotemporal calcifications on brain imaging (see 'Neuroimaging findings' above)

A history of seizures

Dermoscopy may be helpful in visualizing subtle, almost nonapparent clinically, beaded papules along the eyelid (picture 6) [24,40].

A lesional skin biopsy showing typical infiltration of the papillary dermis with periodic acid-Schiff (PAS)-positive hyaline material (picture 7) supports the diagnosis of LP. (See 'Pathology' above.)

The identification of biallelic loss-of-function variants in the extracellular matrix protein ECM1 gene, located on chromosome 1q21.2, provides the definitive diagnosis of LP [3,41].

DIFFERENTIAL DIAGNOSIS — The differential diagnosis of lipoid proteinosis (LP) includes:

Other causes of persistent hoarseness in infancy (see "Hoarseness in children: Evaluation"):

Laryngeal hemangiomas

Laryngeal cysts

Vocal cord paralysis

Vocal cord hypertrophy

Diseases associated with macroglossia with lateral crenations:

Systemic amyloidosis (see "Overview of amyloidosis")

Congenital hypothyroidism (see "Clinical features and detection of congenital hypothyroidism")

Acromegaly (see "Causes and clinical manifestations of acromegaly")

Myxedema (see "Clinical manifestations of hypothyroidism")

Infiltrated verrucous plaques over frictional areas includes the following:

Xanthomas (picture 8) (see "Cutaneous xanthomas")

Nodular localized cutaneous amyloidosis (picture 9) (see "Cutaneous manifestations of amyloidosis")

Lepromatous leprosy – lepromas and cobblestoning of the oral mucosa (see "Leprosy: Epidemiology, microbiology, clinical manifestations, and diagnosis")

Papular mucinosis (also known as lichen myxedematosus) (see "Localized lichen myxedematosus")

Other blistering disease in children that heal with scarring:

Epidermolysis bullosa simplex (picture 10) (see "Epidermolysis bullosa: Epidemiology, pathogenesis, classification, and clinical features", section on 'Epidermolysis bullosa simplex')

Erythropoietic protoporphyria (picture 11) (see "Erythropoietic protoporphyria and X-linked protoporphyria")

Hydroa vacciniforme (see "Photosensitivity disorders (photodermatoses): Clinical manifestations, diagnosis, and treatment", section on 'Hydroa vacciniforme')

Incontinentia pigmenti (picture 12) (see "Incontinentia pigmenti")

Bullous bite reaction (see "Insect and other arthropod bites")

MANAGEMENT

General approach — The management of patients with lipoid proteinosis (LP) should be individualized based on the characteristics of the individual affected. In most cases, it requires a multidisciplinary approach that may involve a dermatologist; ear, nose, and throat specialist; neurologist; psychiatrist; ophthalmologist; dentist; and geneticist.

We will discuss the treatment of cutaneous and mucosal manifestations of LP. The management of neuropsychiatric and other extracutaneous manifestations of LP is beyond the scope of this topic.

Treatment of mucocutaneous manifestations — Medical and surgical treatment of mucosal and cutaneous manifestations of LP is directed at providing symptomatic relief and cosmetic improvement. Because of the rarity of the disease, there are no randomized trials evaluating interventions for LP, and treatment is based on limited evidence from case series and case reports and clinical experience.

Medical therapies — Systemic retinoids, such as acitretin 0.5 mg/kg per day, are a reasonable first-line treatment for the cutaneous and laryngeal manifestations of LP in patients in whom systemic retinoids are not contraindicated. Long-term treatment may be required. However, the optimal duration of treatment has not been determined, and data on the recurrence of symptoms after discontinuation of treatment as well as long-term follow-up data are lacking.

The use of acitretin for LP has been described in many case reports with variable response [42-48]. In the largest series including 10 patients treated with acitretin 0.5 mg/kg per day for six months, seven patients reported a softening of their infiltrated cutaneous papulonodules, seven had an improvement of their voice quality, three had a decrease in oral ulcerations, and three reported an improvement in cutaneous scarring [46]. In other reports, acitretin improved hoarseness but had no effect on cutaneous findings [42,44].

Acitretin is a known teratogen and should be avoided in pregnant women and women of childbearing potential who intend to become pregnant within three years after discontinuation of treatment. For additional information on side effects and monitoring, refer to the Lexicomp drug information monograph included within UpToDate.

Other symptomatic treatments that have been reported for LP include intralesional and topical corticosteroids [49], oral dimethyl sulfoxide [50], etretinate [51], and D-penicillamine [52].

Surgical therapies — Surgical approaches using either carbon dioxide (CO2) laser or cryotherapy are an option for the treatment of laryngeal hyaline deposits [53,54]. In a review of 20 published cases, approximately 70 percent experienced improvement of hoarseness [53]. However, the time to relapse after treatment is unknown, and long-term follow-up data are lacking. One report highlighted the importance of combining surgical interventions with voice therapy for an optimal result [54]. Tracheostomy has been used to manage airway compromise [21].

CO2 laser, erbium-doped yttrium aluminum garnet (Er:YAG) ablative laser, and dermabrasion have been used in a few patients for the treatment of the cosmetically disfiguring facial scarring and moniliform blepharosis [55-57].

Genetic counseling — Consultation with a clinical geneticist is key for accurate diagnosis and reproductive counseling. After a diagnostic visit, an updated genetic consultation is recommended prior to childbearing years, so that the affected individual can better understand their own reproductive risk and options [41].

PROGNOSIS AND FOLLOW-UP — Lipoid proteinosis (LP) is not associated with increased risk of malignancy, and the life expectancy of affected individuals is normal, except in the rare occurrence of airway compromise [7,21]. However, the neurologic and psychiatric manifestations of the disease may result in psychosocial dysfunction and diminished quality of life for these patients [33].

Individuals with LP should be followed by an otolaryngologist for periodic assessment of the vocal cords and upper airways. Children with LP should be followed up routinely, with a special focus on their developmental milestones and psychomotor development. Brain imaging may be warranted if the patient is symptomatic, keeping in mind that mesiotemporal calcifications are more common in patients older than 10 years [35]. (See 'Neuroimaging findings' above.)

SUMMARY AND RECOMMENDATIONS

Definition and pathogenesis – Lipoid proteinosis (LP) is a rare autosomal recessive genodermatosis caused by variants in the extracellular matrix protein gene (ECM1). (See 'Introduction' above and 'Genetics and pathogenesis' above.)

Clinical presentation – The hallmark clinical manifestations of LP include hoarseness and a weak cry since infancy, the development of a woody and enlarged, crenated tongue with limited protrusion (picture 1A-B), acne-like facial scarring (picture 3), pearly papules over the eyelid border (moniliform blepharosis) (picture 4A), and infiltrated papulonodules over the skin. (See 'Mucocutaneous manifestations' above.)

Neurologic manifestations of LP include seizures, migraine, schizophrenia, anxiety, panic attacks, impaired memory, and abnormal emotional responses to perceived danger and fear. (See 'Neurologic manifestations' above.)

Diagnosis – The diagnosis of LP is based on typical clinical manifestations as well as histopathologic findings of periodic acid-Schiff (PAS)-positive hyaline material within lesional skin and mucosae. The finding of horn-shaped calcifications in the mesiotemporal area on brain imaging is considered pathognomonic of LP. The identification of biallelic loss-of-function variants in the ECM1 gene by genetic testing provides the definitive diagnosis. (See 'Diagnosis' above.)

Management – The management of patients with LP requires a multidisciplinary approach that may involve a dermatologist, otolaryngologist, neurologist, psychiatrist, ophthalmologist, and dentist. Systemic retinoids, such as acitretin at the dose of 0.5 mg/kg per day, may be beneficial for improvement of hoarseness, cutaneous infiltrated lesions, and acne-like scarring. Surgical modalities, including laser therapy and cryosurgery, have also been used for the management of laryngeal hyaline deposits and hoarseness. (See 'Management' above.)

Prognosis – Patients with LP generally have a normal life expectancy. However, the neurologic and psychiatric manifestations of the disease may result in psychosocial dysfunction and diminished quality of life for these patients. (See 'Prognosis and follow-up' above.)

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Topic 15517 Version 3.0

References

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