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Trichohepatoenteric syndrome (THES) is characterized by neonatal-onset intractable diarrhea. It often requires long-term total parenteral nutrition (TPN). In addition, other characteristic findings of the syndrome include growth retardation, facial dysmorphism, hair abnormalities, various immunological problems and other rare system findings. Two genes and their associated pathogenic variants have been associated with this syndrome: SKIC3 and SKIC2.
In this case series, the clinical findings and molecular analysis results of a total of 8 patients from 5 different families who presented with persistent diarrhea and were diagnosed with THES were shared. Pathogenic variants were detected in the SKIC3 gene in 6 of our patients and in the SKIC2 gene in 2 patients. It was planned to compare the clinical findings of our patients with other patients, together with literature data, and to present yet-undefined phenotypic features that may be related to THES. In our case series, in addition to our patients with a novel variant, patient number 2 had a dual phenotype (THES and Spondyloepimetaphyseal dysplasia, sponastrime type) that has not been reported yet. Delay in gross motor skills, mild cognitive impairment, radioulnar synostosis, osteoporosis, nephropathy and cystic lesions (renal and liver) were observed as unreported phenotypic findings.
We are expanding the clinical and molecular repertoire of the syndrome regarding patients diagnosed with THES. We recommend that the NGS (next-generation sequencing) multigene panel should be used as a diagnostic tool in cases with persistent diarrhea.

UNASSIGNED: A 55-year-old male patient developed a mass in the left inguinal area with left lower limb swelling and first visited a local hospital 3 months earlier because of unrelieved pain. An MRI scan suggested left suprapubic branch and left acetabular bone destruction, abnormal soft tissue signals within the iliopsoas muscle of the anterior edge of the left iliac bone, and enlarged lymph nodes in the left iliac fossa and left inguinal region. The patient subsequently underwent left pelvic lesion open biopsy and inguinal lymph node resection biopsy. According to pathological reports, the left inguinal mass was considered to be a malignant tumor of cutaneous accessory origin (pilomatrix carcinoma) with extensive vitreous changes. The suprapupubis branch mass was considered to be a bone metastatic pilomatrix carcinoma. Immunohistochemistry (IHC) revealed a PDL1 combined positive score (CPS) of 8. DNA next-generation sequencing (NGS) showed CDKN2A L65Rfs*53 mutation. The patient received three cycles of gemcitabine and nedaplatin. However, the lesion progressed.
UNASSIGNED: Chemotherapy is not effective for treating pilomatrix carcinoma. PDL1 antibodies and CDK4/6 inhibitors might be treatment options for pilomatrix carcinoma.

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BACKGROUND: Pilomatrixoma, also known as calcifying epithelioma of Malherbe, is a benign cutaneous neoplasm that demonstrates differentiation towards the matrix portion of hair follicles. It is the most common benign cutaneous neoplasm in childhood and youth, although it can occur at any age. With a general incidence ranging from 0.001% to 0.0031% of all cutaneous tumors. There is a slight predilection for females, with a female-to-male ratio of 1.15:1.
METHODS: Observational, descriptive, retrospective, and cross-sectional study conducted using the electronic database of the dermatopathology department of Dr. Manuel Gea González General Hospital, from January 1992 to July 2023. Only cases with a histopathological diagnosis of pilomatrixoma, pilomatricoma, and Malherbe\'s calcifying epithelioma were included.
RESULTS: A total of 200 pilomatrixomas were recorded in 177 patients. The tumor predominantly affected females in the pediatric age group, with an average age of 22.98 years in the studied population. The most common location was the head (periorbital region), followed by the upper extremities and trunk. Upon separating the population into pediatric and adult groups, 111 and 89 cases were identified, respectively.
CONCLUSIONS: We present a detailed study on pilomatrixomas with a comprehensive overview of the demographic, clinical, and epidemiological characteristics of this benign cutaneous neoplasm. The results revealed robust statistical data highlighting the distribution by age, gender, topography, morphology, accompanying symptoms, and frequency of clinical differential diagnoses. This study significantly contributes to the existing knowledge of pilomatrixomas and serves as a valuable reference for future research and clinical practice.
UNASSIGNED: El pilomatrixoma o epitelioma calcificado de Malherbe es una neoplasia cutánea benigna que muestra diferenciación hacia la porción de la matriz de los folículos pilosos. Es la neoplasia cutánea benigna más frecuente en la infancia y la juventud, aunque puede ocurrir a cualquier edad. Tiene una incidencia general que oscila entre el 0.001% y el 0.0031% de todos los tumores cutáneos. Se reporta una ligera predilección por el sexo femenino, con una relación mujer: hombre de 1.15:1.
UNASSIGNED: Estudio observacional, descriptivo, retrospectivo y transversal en el que se utilizó la base de datos electrónica del departamento de dermatopatología del Hospital General Dr. Manuel Gea González, entre enero de 1992 y julio de 2023. Para la búsqueda de los casos solo se incluyeron aquellos con diagnóstico histopatológico de pilomatrixoma, pilomatricoma o epitelioma calcificado de Malherbe.
RESULTS: Se registraron 200 pilomatrixomas en 177 pacientes. El tumor predominó en mujeres de edad pediátrica; el promedio de edad de la población estudiada fue 22.98 años. La topografía más frecuente fue la cabeza (región periorbitaria), seguida de las extremidades superiores y el tronco. Al separar la población en pediátricos y adultos, se encontraron 111 y 89 casos, respectivamente.
CONCLUSIONS: Presentamos un estudio detallado sobre pilomatrixomas con una visión exhaustiva de las características demográficas, clínicas y epidemiológicas de esta neoplasia cutánea benigna. Los resultados revelaron datos estadísticos sólidos, destacando la distribución por edades, sexo, topografía, morfología, síntomas acompañantes y frecuencia de diagnósticos diferenciales clínicos. Este estudio contribuye significativamente al conocimiento existente sobre los pilomatrixomas y sirve como una referencia valiosa para futuras investigaciones y para la práctica clínica.

Here we report the case of a young boy with developmental delay, thin sparse hair, early closure of the anterior fontanel, bilateral choanal atresia, brachyturicephaly; and dysmorphic features closely resembling those seen in trichorhinophalangeal syndrome (TRPS). These features include sparse hair, sparse lateral eyebrows, a bulbous pear shaped nose, a long philtrum, thin lips, small/hypoplastic nails, pes planovalgus; bilateral cone-shaped epiphyses at the proximal 5th phalanx, slender long bones, coxa valga, mild scoliosis, and delayed bone age. Given that TRPS had been excluded by a thorough genetic analysis, whole exome sequencing was performed and a heterozygous likely pathogenic variant was identified in the FBXO11 gene (NM_001190274.2: c.1781A > G; p. His594Arg), confirming the diagnosis of the newly individualized IDDFBA syndrome: Intellectual Developmental Disorder, dysmorphic Facies, and Behavioral Abnormalities (OMIM# 618,089). Our findings further delineate the clinical spectrum linked to FBXO11 and highlight the importance of investigating further cases with mutations in this gene to establish a potential genotype-phenotype correlation.

We present a case of a young patient with chest pain. Labs and cardiac imaging were suspicious for acute myocarditis. Genetic testing revealed a diagnosis of desmoplakin cardiomyopathy. Desmoplakin cardiomyopathy may be considered in patients with recurrent acute myocarditis or a family history of cardiac disease to avoid the potential for misdiagnosis.

Pilomatricoma, also known as Pilamatrixoma or Malherbe\'s calcifying epithelioma, is a benign skin tumour with a bimodal age distribution between the paediatric and elderly age groups. Although it was previously thought to be rare, recent studies have revealed that it is quite common. Typically, pilomatricoma is diagnosed following histopathological examination of the lesion as it is frequently misdiagnosed with other types of skin pathology. In our case, the child presented with painless swelling of the left infraauricular region. The initial cytology and imaging were unable to provide a definite diagnosis. An excision biopsy was done, and a histopathological examination was suggestive of Pilomatricoma. Therefore, Pilomatricoma ought to be considered in the differential diagnosis of head and neck lesions in hopes of providing a better understanding on this pathological lesion.

Tricho-rhino-phalangeal syndrome (TRPS) is a rare malformation syndrome characterized by distinctive facial, ectodermal, and skeletal features. TRPS is divided into TRPS type I/III caused by pathogenic variants in TRPS1 and TRPS type II caused by contiguous gene deletions also spanning EXT1 and RAD21. Due to its rarity, knowledge of the clinical course of TRPS remains limited. Therefore, we collected and characterized a case series of 15 TRPS type I patients (median age at diagnosis 15 [interquartile range: 10-18] years, 11 females [73%]) seen at Aarhus University Hospital, Denmark, with a median follow-up period of 10 years. We estimated a minimum point prevalence of 0.5 in 100,000 (95% CI: 0.3-0.8 per 100,000) persons. Common craniofacial features included fine and sparse hair with a high anterior hairline, eyebrows with lateral thinning and a thicker medial part, prominent ears, a bulbous nose tip with small nasal alae, a low-hanging, and often wide columella, and a long philtrum with a thin upper vermillion. Specific skeletal features included short stature and deviating and short fingers with cone-shaped epiphyses and shortened metacarpals on radiographs. The most significant morbidity of the cohort was joint complaints, which were reported by all patients, often already before the TRPS diagnosis was established. We identified ten different TRPS1 variants including both frameshift/nonsense, missense, and splice-site variants, including seven variants not previously reported in the literature. In accordance with previous literature, no genotype-phenotype correlation was identified. The clinical trajectories were heterogeneous involving pediatrics, dermatology, orthopedic surgery, clinical genetics, and/or odontology, emphasizing that close multidisciplinary collaboration is essential for early diagnosis of TRPS and to ensure proper and timely patient care and counseling.