Diagnostic and Therapeutic Challenges in Pediatric Cutaneous Melanoma: Two Case Reports From the Moroccan Population.

Although cutaneous melanoma (CM) is one of the most prevalent cancers in adults, it is rarely reported in children. Often, the diagnosis is delayed and difficult to make. We presented two novel examples of pediatric CM from the Department of Pediatric Plastic Surgery Unit at Rabat Children's Hospital. The first case included a 14-year-old girl who had a cutaneous nodule on her right leg. She first came with an inguinal enlargement, for which a lymph node biopsy was positive. A further inguinal dissection of 10 lymph nodes revealed four metastatic ones (4N+\10N). She received a wide local excision of the lesion, which revealed nodular melanoma with an 8 mm thickness as determined by Breslow, as well as safe lateral and deep margins. The course was distinguished by the emergence of new metastatic lymph node locations, and the patient died a few weeks later. The second case included a 13-year-old girl who appeared with a cutaneous lesion centered on a scar on her right leg. She also underwent a large local excision, which revealed nodular melanoma with a thickness of 12 mm according to Breslow, as well as complete lateral and deep excisions. Her follow-up revealed favorable results, with no local recurrence or distant metastases. This case series emphasized the difficult management of two separate occurrences of pediatric CM. We also emphasized the importance of early detection of suspicious lesions, regular follow-ups, and raising awareness among high-risk patients.

Homozygous nonsense mutation of WNT10B gene in a Moroccan family with split-hand foot malformation identified by exome sequencing: a case report.

Split-hand foot malformation (SHFM) is a clinically heterogeneous congenital limb defect affecting predominantly the central rays of hands and/or feet. The clinical expression varies in severity between patients as well between the limbs in the same individual. SHFM might be non-syndromic with limb-confined manifestations or syndromic with extra-limb manifestations. Isolated SHFM is a rare condition with an incidence of about 1 per 18,000 live born infants and accounts for 8-17 % of all limb malformations. To date, many chromosomal loci and genes have been described as associated with isolated SHFM, i.e., SHFM1 to 6. SHFM6 is one of the rarest forms of SHFM, and is caused by mutations in WNT10B gene. Less than ten pathogenic variants have been described. We have investigated a large consanguineous Moroccan family with three affected members showing feet malformations with or without split hand malformation phenotypes. Using an exome sequencing approach, we identified a homozygous nonsense variant p.Arg115* of WNT10B gene retaining thereby the diagnosis of SHFM6. This homozygous nonsense mutation identified by exome sequencing in a large family of split hand foot malformation highlights the importance of exome sequencing in genetically heterogeneous entities.

Reversed cross finger subcutaneous flap: A rapid way to cover finger defects.

Adequate coverage of dorsal finger wounds is often a challenge. The reversed cross finger subcutaneous flap to cover defects on the dorsum of phalanx constitutes an excellent option for coverage of wounds over the middle and distal phalanges of the index, middle, ring, and small fingers. It's an easy flap and represents our first choice to cover those defects.

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development.

Bosma arhinia microphthalmia syndrome (BAMS) is an extremely rare and striking condition characterized by complete absence of the nose with or without ocular defects. We report here that missense mutations in the epigenetic regulator SMCHD1 mapping to the extended ATPase domain of the encoded protein cause BAMS in all 14 cases studied. All mutations were de novo where parental DNA was available. Biochemical tests and in vivo assays in Xenopus laevis embryos suggest that these mutations may behave as gain-of-function alleles. This finding is in contrast to the loss-of-function mutations in SMCHD1 that have been associated with facioscapulohumeral muscular dystrophy (FSHD) type 2. Our results establish SMCHD1 as a key player in nasal development and provide biochemical insight into its enzymatic function that may be exploited for development of therapeutics for FSHD.

Clinical and molecular findings in a Moroccan patient with popliteal pterygium syndrome: a case report.

INTRODUCTION: Popliteal pterygium syndrome is a congenital malformation that includes orofacial, musculoskeletal and genitourinary anomalies. It is a rare autosomal dominant disorder due to a mutation of the IRF6 gene on 1q32.2. CASE PRESENTATION: A one-month-old Moroccan baby boy was diagnosed with typical features of popliteal pterygium syndrome and carried the c.250C>T; p.Arg84Cys mutation of the IRF6 gene. CONCLUSIONS: We report on the first description of a Moroccan popliteal pterygium syndrome patient. This diagnosis allowed us to provide an appropriate course of management to the patient and offer genetic counseling to his family.

Two-stage free latissimus dorsi flap: a safe strategy for reconstruction of large defects of the abdominal wall.

We report a case of full abdominal wall reconstruction after resection of a dermatofibrosarcoma protuberans. The treatment comprised wide resection with a 5 cm peripheral margin and deep resection to a disease-free anatomical structure. The reconstruction was done in two-stages with a free latissimus dorsi flap.