Laugier‐Hunziker syndrome: a case report of the pediatric patient and review of the literature

Sputa-Grzegrzółka, Patrycja; Woźniak, Zdzisław; Akutko, Katarzyna; Pytrus, Tomasz; Baran, Wojciech; Calik, Jacek; Glatzel-Plucińska, Natalia; Domagała, Zygmunt; Podhorska-Okołów, Marzena; Stawarski, Andrzej; Dzięgiel, Piotr

doi:10.1111/ijd.15262

Cited by 4 publications

(4 citation statements)

References 31 publications

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“…Other endocrine conditions displaying mucosal hyperpigmentation that should be differentiated from AD include Cushing’s disease, Graves’ disease, Nelson’s syndrome, and McCune–Albright syndrome, as well as other syndromes with potential endocrine involvement such as Peutz–Jeghers syndrome [ 33 , 36 , 37 ]. Among nonendocrine conditions, we mention smoker’s melanosis, drug- or tattoo-pigment-associated pigmentation, and Laugier–Hunziker syndrome [ 33 , 36 , 37 , 38 , 39 , 40 ]. Laugier–Hunziker syndrome represents a rare, noncongenital, benign pigmentation of the oral mucosa, lips, and nails, a condition that is typically a diagnostic of exclusion [ 38 , 39 , 40 ].…”

Section: Methodsmentioning

confidence: 99%

“…Among nonendocrine conditions, we mention smoker’s melanosis, drug- or tattoo-pigment-associated pigmentation, and Laugier–Hunziker syndrome [ 33 , 36 , 37 , 38 , 39 , 40 ]. Laugier–Hunziker syndrome represents a rare, noncongenital, benign pigmentation of the oral mucosa, lips, and nails, a condition that is typically a diagnostic of exclusion [ 38 , 39 , 40 ]. Genetic and inflammatory causes represent endogenous factors of pigmentation, while iatrogenic and environmental exposure is considered an exogenous factor [ 37 ].…”

Section: Methodsmentioning

confidence: 99%

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New Approach to Addison Disease: Oral Manifestations Due to Endocrine Dysfunction and Comorbidity Burden

et al. 2022

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This review highlights oral anomalies with major clinical impact in Addison disease (AD), including dental health and dermatologic features, through a dual perspective: pigmentation issues and AD comorbidities with oral manifestations. Affecting 92% of AD patients, cutaneomucosal hyperpigmentation is synchronous with or precedes general manifestations by up to a decade, underlying melanocytic infiltration of the basal epidermal layer; melanophages in the superficial dermis; and, rarely, acanthosis, perivascular lymphocytic infiltrate, and hyperkeratosis. Intraoral pigmentation might be the only sign of AD; thus, early recognition is mandatory, and biopsy is helpful in selected cases. The buccal area is the most affected location; other sites are palatine arches, lips, gums, and tongue. Pigmented oral lesions are patchy or diffuse; mostly asymptomatic; and occasionally accompanied by pain, itchiness, and burn-like lesions. Pigmented lingual patches are isolated or multiple, located on dorsal and lateral areas; fungiform pigmented papillae are also reported in AD individuals. Dermoscopy examination is particularly indicated for fungal etiology; yet, it is not routinely performed. AD’s comorbidity burden includes the cluster of autoimmune polyglandular syndrome (APS) type 1 underlying AIRE gene malfunction. Chronic cutaneomucosal candidiasis (CMC), including oral CMC, represents the first sign of APS1 in 70–80% of cases, displaying autoantibodies against interleukin (IL)-17A, IL-17F ± IL-22, and probably a high mucosal concentration of interferon (IFN)-γ. CMC is prone to systemic candidiasis, representing a procarcinogenic status due to Th17 cell anomalies. In APS1, the first cause of mortality is infections (24%), followed by oral and esophageal cancers (15%). Autoimmune hypoparathyroidism (HyP) is the earliest endocrine element in APS1; a combination of CMC by the age of 5 years and dental enamel hypoplasia (the most frequent dental complication of pediatric HyP) by the age of 15 is an indication for HyP assessment. Children with HyP might experience short dental roots, enamel opacities, hypodontia, and eruption dysfunctions. Copresence of APS-related type 1 diabetes mellitus (DM) enhances the risk of CMC, as well as periodontal disease (PD). Anemia-related mucosal pallor is related to DM, hypothyroidism, hypogonadism, corresponding gastroenterological diseases (Crohn’s disease also presents oral ulceration (OU), mucogingivitis, and a 2-3 times higher risk of PD; Biermer anemia might cause hyperpigmentation by itself), and rheumatologic diseases (lupus induces OU, honeycomb plaques, keratotic plaques, angular cheilitis, buccal petechial lesions, and PD). In more than half of the patients, associated vitiligo involves depigmentation of oral mucosa at different levels (palatal, gingival, alveolar, buccal mucosa, and lips). Celiac disease may manifest xerostomia, dry lips, OU, sialadenitis, recurrent aphthous stomatitis and dental enamel defects in children, a higher prevalence of caries and dentin sensitivity, and gingival bleeding. Oral pigmented lesions might provide a useful index of suspicion for AD in apparently healthy individuals, and thus an adrenocorticotropic hormone (ACTH) stimulation is useful. The spectrum of autoimmune AD comorbidities massively complicates the overall picture of oral manifestations.

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Section: Methodsmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

New Approach to Addison Disease: Oral Manifestations Due to Endocrine Dysfunction and Comorbidity Burden

et al. 2022

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“…This is an acquired, benign disorder with hyperpigmentation on the lips, palate and buccal mucosa. Pigmentations are acquired in young adult age and this syndrome is not associated with hamartomas or STK11/LKB1 mutations [60].…”

Section: Differential Diagnosismentioning

confidence: 99%

Peutz-Jeghers syndrome

Tachecí

Kopáčová²,

Bureš³

2021

Current Opinion in Gastroenterology

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Purpose of review Peutz-Jeghers syndrome is a rare, autosomal dominant, hereditary polyposis syndrome defined by gastrointestinal hamartomas and mucocutaneous pigmentations, caused by a germline mutation in the serine/ threonine kinase 11 or liver kinase B1 (STK11/LKB1) genes. Hamartomatous polyps located throughout the gastrointestinal tract can be complicated by bleeding and small bowel intussusception, potentially leading to the need for emergency surgery. Individuals suffering from Peutz-Jeghers syndrome have an increased lifetime risk of various forms of cancer (gastrointestinal, pancreatic, lung, breast, uterine, ovarian and testicular). Surveillance should lead to the prevention of complications and thus a reduction in mortality and morbidity of patients. Recent findings A combined approach based on wireless capsule endoscopy, magnetic resonance enterography and device-assisted enteroscopy is effective in reduction of the polyp burden and thus decreasing the risk of bleeding and intussusception. Current guidelines for screening and surveillance are mostly based on expert opinion rather than evidence. Summary Peutz-Jeghers syndrome is an emerging disease that significantly affects the quality of life enjoyed by patients. Despite of all the progress in improved early diagnostics, options for advanced endoscopic therapy and elaborate surveillance, acute and chronic complications decrease the life expectancy of patients suffering from Peutz-Jeghers syndrome.

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“…Skin and mucosa hyperpigmentation need to be differentiated from other conditions that are indicated by hyperpigmentation: Addison disease (AD), McCune-Albright syndrome (MAS), and Laugier-Hunziker syndrome (LHS) (25).…”

Section: Differential Diagnosis Of Oral Hyperpigmentationmentioning

confidence: 99%

Peutz‑Jeghers syndrome: Skin manifestations and endocrine anomalies (Review)

et al. 2021

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Peutz-Jeghers syndrome (PJS), a rare autosomal dominant serine/threonine kinase 11 (STK11)/ liver kinase B1 (LKB1) gene-related genodermatosis, is characterized by oral hyperpigmentation (OHP); multiple gastro-intestinal mucosal benign hamartomatous polyps causing local bleeding, occlusion, intussusception, post-resection small bowel syndrome, associated increased risk of small intestinal cancer (incidence during the third decade); and 76% cumulative higher risk than the global population of developing non-gastrointestinal tumors (female predominance) including ovarian/testicular neoplasia, pancreatic and gynecologic (breast, uterus, ovarian) cancers. Suggestive PJS-associated OHP requires STK11 genetic testing. Abdominal pain in an OHP patient may be related to PJS-associated polyps. Other features include focal depigmentation followed by hyperpigmentation, and xeroderma pigmentosum-like lesions. The severity of the dermatological findings is correlated with gastrointestinal polyps. The STK11 gene is linked to reserve of primordial follicles, polycystic ovary syndrome, female fertility, and spermatogenesis. PJS is associated with 2 types of ovarian sex-cord stroma tumors (SCSTs): annular tubules (SCTATs) and pure Sertoli cell tumors. SCSTs accounts for 8% of ovarian cancer and SCTATs represents 2% of SCST, which may be associated with the overproduction of progesterone. PJS-SCTAT vs. non-PJS-SCTAT reveals bilateral/multifocal, small tumors with a benign behavior vs. a unique ovarian, large tumor with increased malignant/metastasis risk. Male precocious puberty is due to large cell calcifying Sertoli cell tumors (LCCSCTs). Notably, 30-40% of LCCSCTs are caused by PJS or Carney complex. PJS-LCCSCT is not aggressive, but it may be bilateral/multifocal, with the ultrasound hallmark being micro-calcifications. Testicular, intra-tubular large cell hyalinizing Sertoli cell tumor is the second testicle neoplasia in PJS. The skin and mucosal lesions are useful markers of PJS, assisting with the early identification of hamartomatouspolyps and initiation of serial surveillance of ovarian, or testicular neoplasia.

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Laugier‐Hunziker syndrome: a case report of the pediatric patient and review of the literature

Cited by 4 publications

References 31 publications

New Approach to Addison Disease: Oral Manifestations Due to Endocrine Dysfunction and Comorbidity Burden

New Approach to Addison Disease: Oral Manifestations Due to Endocrine Dysfunction and Comorbidity Burden

Peutz-Jeghers syndrome

Peutz‑Jeghers syndrome: Skin manifestations and endocrine anomalies (Review)

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