Multiple lentigines syndrome with positive family history:a case report and review of the literature

Multiple lentigines syndrome is an autosomal dominant genetic disease,and its expressivity and penetrance are variable.It is also known as LEOPARD syndrome(LS).The genes known to be associated with LS include PTPN11,RAF1 and BRAF.The diagnosis of LS(OMIM 151100)is based on the observation of key features in the clinical background.LS caused by a germline PTPN11 mutation are characterized as multisystemic anomalies and variable marked phenotypes such as multiple lentigines and cafénoir spots,electrocardiographic conduction abnormalities,ocular hypertelorism/obstructive cardiomyopathy,pulmonary stenosis,abnormal genitalia,retardation of growth,and deafness.Phenotype overlap complicates clinical discrimination within RASopathies,making the diagnosis of LS more confusing and challenging.Besides,LS patients do not usually present with all these typical clinical features,increasing the possibility of underdiagnosis or misdiagnosis.Herein,we report a case of a 41-year-old male presenting with multiple dark pigmented macules all over the body,thoracic deformity and family history.And we followed up the patients.

Eruptive Lentigines after Adalimumab Therapy

Adalimumab, a TNF-alpha antagonist, is the first fully humanized recombinant immunoglobulin G1 (IgG1) monoclonal antibody. It is presently widely used in the systemic treatment of rheumatoid arthritis, inflammatory bowel disease, moderate and severe psoriasis and hidradenitis suppurativa. However, its administration is associated with a two-fold risk of severe and possibly fatal infections and in some rare cases with congestive heart failure, lymphoma, lupus-like syndrome, cytopenias, hepatotoxicity and development of demyelinating neurological disorders. Furthermore, the occurrence of various types of melanocytic skin lesions has been reported during treatment with adalimumab. In the present paper we report the case of a female psoriatic patient who developed eruptive lentigines following treatment with this compound.

A case of labial lentigines in Peutz-Jeghers syndrome treated using a Q-switched alexandrite laser

Peutz-Jeghers syndrome(PJS)is a polygenic autosomal dominant disease characterized by multiple gastrointestinal polyps and pigmentation of the mucosa and skin.While there are a few reports regarding successful treatment of intestinal polyps in PJS,there is little research regarding treatment of mucocutaneous melanosis.This study investigated the many advantages of using a Q-switched alexandrite laser to treat mucocutaneous melanosis.In this case,a 19-year-old male with PJS presented with labial lentigines and received two Q-switched alexandrite laser treatments in 2018.Subsequently,the efficacy of the treatment was evaluated.The result of the evaluation was that,after the two laser treatments,the labial lentigines were successfully removed,and there were no complications.

Lentigines within Nevus Depigmentosus

Introduction Nevus depigmentosus (ND) is classically defined as a congenital nonprogressive hypopigmented macule or patch and may result from functional abnormalities of melanocytes.Only a few cases of lentigines within ND have been reported to date,1-3 and the relationship between lentigines and ND remains unknown.We herein describe a 20-year-old Chinese man with lentigines within ND.It is beneficial for enhancing our comprehension about disturbances of pigmentation so that we pay more attention to this interesting phenomenon.

Neurofibromatosis Type 1 in Four Children Cases

Neurofibromatosis Type 1 (NF-1 or Von Recklinghausen disease) is an autosomal dominant genetic disease, characterized by an extreme variability of its clinical expression which is also found in the same family. Our work focuses on the exploitation of four cases of patients with NF-1 who were enrolled in the paediatric neurology consultation at Rabat Children’s Hospital. They are two infants and two children. Otherwise the diagnosis was made in front of the existence of café au lait and lentiginous spots in two boys, also the existence of café au lait spots and abnormalities in brain imaging in two girls. Thus an evolution was marked by a favorable outcome for three patients and neurological sequelae in one patient.

Recent advancements in the diagnosis and treatment of acral melanoma

Acral melanoma(AM)is the most common histologic subtype of melanoma in dark-skinned patients and is associated with a worse prognosis and a high mortality rate,largely due to the inconspicuous nature of early-stage lesions,which can lead to late diagnosis.Because of the overlapping clinical and histopathological features of AM with other forms of cutaneous melanomas,early detection of AM requires a multidisciplinary approach that integrates various diagnostic modalities,including clinical examination,dermoscopy,histopathology,molecular testing,radiological imaging,and blood tests.While surgery is the preferred method of treatment for AM,other therapeutic options may be employed based on the stage and underlying etiology of the disease.Immune checkpoint inhibitors,molecular targeted therapy,radiotherapy,chemotherapy,and oncolytic virotherapy represent promising advanced treatment options for AM.In this review,we provide an overview of the latest advancements in diagnostic and therapeutic methods for AM,highlighting the importance of early detection and the prompt,individualized management of this challenging disease.