BACKGROUND: The SLC29A3 gene, which encodes a nucleoside transporter protein, is primarily located in intracellular membranes. The mutations in this gene can give rise to various clinical manifestations, including H syndrome, dysosteosclerosis, Faisalabad histiocytosis, and pigmented hypertrichosis with insulin-dependent diabetes. The aim of this study is to present two Iranian patients with H syndrome and to describe a novel start-loss mutation in SLC29A3 gene.
METHODS: In this study, we employed whole-exome sequencing (WES) as a method to identify genetic variations that contribute to the development of H syndrome in a 16-year-old girl and her 8-year-old brother. These siblings were part of an Iranian family with consanguineous parents. To confirmed the pathogenicity of the identified variant, we utilized in-silico tools and cross-referenced various databases to confirm its novelty. Additionally, we conducted a co-segregation study and verified the presence of the variant in the parents of the affected patients through Sanger sequencing.
RESULTS: In our study, we identified a novel start-loss mutation (c.2T > A, p.Met1Lys) in the SLC29A3 gene, which was found in both of two patients. Co-segregation analysis using Sanger sequencing confirmed that this variant was inherited from the parents. To evaluate the potential pathogenicity and novelty of this mutation, we consulted various databases. Additionally, we employed bioinformatics tools to predict the three-dimensional structure of the mutant SLC29A3 protein. These analyses were conducted with the aim of providing valuable insights into the functional implications of the identified mutation on the structure and function of the SLC29A3 protein.
CONCLUSIONS: Our study contributes to the expanding body of evidence supporting the association between mutations in the SLC29A3 gene and H syndrome. The molecular analysis of diseases related to SLC29A3 is crucial in understanding the range of variability and raising awareness of H syndrome, with the ultimate goal of facilitating early diagnosis and appropriate treatment. The discovery of this novel biallelic variant in the probands further underscores the significance of utilizing genetic testing approaches, such as WES, as dependable diagnostic tools for individuals with this particular condition.

A case of congenital hemifacial hypertrophy is described. This rare condition is more prevalent in males, and it is characterized by facial asymmetry. Sometimes, Hemifacial hypertrophy can lead to obstruction of the respiratory airway which may prove lethal. Here we made an attempt to present a complicated female case of true congenital hemifacial hypertrophy with its clinical, radiological presentation and surgical treatment. No single theory for hemifacial hypertrophy explains the etiology adequately. A 19-month-old female child was referred to our hospital with difficulty in breathing. She had Hemifacial hypertrophy presents with neck swelling, enlarged ear pinna with hyperpigmentation, and hypertrichosis. Radiological imaging was done, and it was diagnosed as congenital hemifacial hypertrophy. A mass obstructing the oropharynx with tonsillar enlargement was noted. Transoral endoscopic coablator-assisted excision of the oropharyngeal mass with tonsillar excision was done and the airway was secured. The neck fatty mass was excised externally. Follow-up was done for two years. Congenital Hemifacial hypertrophy is a rare congenital condition and has a good prognosis. Generally, Hemifacial hypertrophy presents with neck swelling, enlarged ear pinna with hyperpigmentation, and hypertrichosis. sometimes when presented with respiratory obstruction it can prove fatal which can be managed by securing the airway immediately. Here this case was managed with endoscopic surgical excision of obstruction and no further complications were noted.
UNASSIGNED: The online version contains supplementary material available at 10.1007/s12070-024-04525-x.

This case report describes an adult male patient with a severe acneiform eruption on his chest and back.

BACKGROUND: The H syndrome is an autosomal recessive disease characterized by hyperpigmentation, hypertrichosis and sensorineural hearing loss.
METHODS: A mutation in the coding of the human equilibrative nucleoside transporter 3 (hENT3) within the SLC29A3 gene on chromosome 10q22 leads to the manifestation of this disease. In this report, we present two cases of H syndrome.
RESULTS: The first patient exhibits hyperpigmentation, hypogonadism, Type 1 diabetes mellitus, arthritis and osteoporosis. The second patient experiences hyperpigmentation, hypertrichosis, osteopenia and hypogonadism.
CONCLUSIONS: Our objective is to broaden the clinical spectrum of H syndrome, highlighting the involvement of arthritis, hyperinflammation and low bone mineral density in individuals with this disorder.

BACKGROUND: Laser hair removal (LHR) is one of the most requested cosmetic procedures worldwide. A rare side effect is the appearance of excess hair around previously treated areas, known as paradoxical hypertrichosis.
OBJECTIVE: The aim of this study was to retrospectively identify the cause of this side effect.
METHODS: This study included all patients who underwent LHR at our center between November 2018 and November 2020. Alexandrite laser hair removal (HR) or diode laser super hair removal (SHR) was performed in 70% and 30% of cases, respectively. Clinical features and daily habits of patients with and without postlaser hypertrichosis were compared.
RESULTS: Of the 7381 patients who received LHR, 25 patients (0.34%) demonstrated an increase in hair growth compared to baseline. Of these 25 patients, 24 had been treated with alexandrite laser HR (P < .01). The most common site was the upper arm, followed by the periareolar area. Daily sun protection was associated with a significantly lower incidence of hypertrichosis (P < .05), as was confirmed and shown to be independent of Fitzpatrick skin type by binary logistic regression analysis (odds ratio = 0.41, P < .05).
CONCLUSIONS: In our clinic, we observed paradoxical hypertrichosis after laser hair removal in a small minority of cases, as described by others. We did not observe differences in incidence related to skin type, but daily sun protection and LHR with diode laser SHR were associated with significant reductions in incidence rates. In addition to previously reported common sites, we also identified the periareolar area as a high-risk region.

Cantu syndrome is a rare and complex multisystem disorder characterized by hypertrichosis, facial dysmorphism, osteochondroplasia and cardiac abnormalities. With only 150 cases reported worldwide, Cantu syndrome is now gaining wider recognition due to molecular testing and a growing body of literature that further characterizes the syndrome and some of its most important features. Cardiovascular pathology previously described in the literature include cardiomegaly, pericardial effusion, vascular dilation and tortuosity, and other congenital heart defects. However, cardiovascular involvement is highly variable amongst individuals with Cantu syndrome. In some instances, it can be extensive and severe requiring surgical management and long term follow up.
Herein we report a case of a fourteen-year-old female who presented with worsening pericardial effusion of unknown etiology, and echocardiographic findings of concentric left ventricular hypertrophy, a mildly dilated aortic root and ascending aorta. Her medical history was notable for hemoptysis and an episode of pulmonary hemorrhage secondary to multiple aortopulmonary collaterals that were subsequently embolized in early childhood. She was initially managed with Ibuprofen and Colchicine but continued to worsen, and ultimately required a pericardial window for the management of refractory pericardial effusion. Imaging studies obtained on subsequent visits revealed multiple dilated and tortuous blood vessels in the head, neck, chest, and pelvis. A cardiomyopathy molecular studies panel was sent, and a pathogenic variant was identified in the ABCC9 gene, confirming the molecular diagnosis of autosomal dominant Cantu syndrome.
Vascular anomalies and significant cardiac involvement are often present in Cantu syndrome, however there are currently no established screening recommendations or surveillance protocols in place. The triad of hypertrichosis, facial dysmorphism, and unexplained cardiovascular involvement in any patient should raise suspicion for Cantu syndrome and warrant further investigation. Initial cardiac evaluation and follow up should be indicated in any patient with a clinical and/or molecular diagnosis of Cantu syndrome. Furthermore, whole body imaging should be utilized to evaluate the extent of vascular involvement and dictate long term monitoring and care.

In recent months, the general public has become more cognizant of the potential of oral minoxidil to promote hair growth; this was promulgated, in part, by an article published in the New York Times entitled, \"An Old Medicine Grows New Hair for Pennies a Day, Doctors Say.\" Minoxidil was added to the pharmacologic armamentarium as an antihypertensive nearly 60 years ago and was found to trigger hypertrichosis in many patients, but its use dropped sharply as cardiologists observed a number of adverse cardiovascular events including ischemic heart disease, left ventricular hypertrophy, pleural effusions, and pericardial effusions. Studies in the realm of dermatology have explored the utility and safety of low dose oral minoxidil (LDOM) for management of alopecia. This article highlights potential clinical conundrums posed by these rare but severe cardiovascular complications and the importance of collaboration between cardiologists and dermatologists when employing this agent in patients with cardiorenal or cardiovascular risk factors.

Abnormal hyperpolarization of the KCNK4 gene, expressed in the nervous system, brain, and periodontal ligament fibroblasts, leads to impaired neurotransmitter sensitivity, cardiac arrhythmias, and endocrine dysfunction, as well as, progressive cell proliferation. De novo gain of function variants in the KCNK4 gene were reported to cause a recognizable syndrome characterized by facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth (FHEIG, OMIM# 618381). FHEIG is extremely rare with only three reported cases in the literature. Herein, we describe the first inherited KCNK4 variant (c.730G>C, p.Ala244Pro) in an Egyptian boy and his mother. Variable phenotypic expressivity was noted as the patient presented with the full-blown picture of the syndrome while the mother presented only with hypertrichosis and gingival overgrowth without any neurological manifestations. The c.730G>C (p.Ala244Pro) variant was described before in a single patient and when comparing the phenotype with our patient, a phenotype-genotype correlation seems likely. Atrial fibrillation and joint laxity are new associated findings noted in our patient extending the clinical phenotype of the syndrome. Dental management was offered to the affected boy and a dramatic improvement was noted as the patient regained his smile, restored the mastication function, and resumed his psychological stability.

Many studies have reported the role of hair follicles (HFs) in the wound healing response, and vice versa, the creation of superficial injuries may stimulate hair growth, which has encouraged new treatments for hair loss.
To review the phenomenon of wound-induced hair growth and the usefulness of therapeutic procedures based on skin wounding in androgenetic alopecia (AGA).
A literature search was conducted to review cases of localized hypertrichosis induced by wounds and the role of microneedling, fractional laser, and scalp threading as monotherapy for AGA.
Localized hypertrichosis has been extensively reported after bone fractures, burn injury, chronic venous ulcer, etc. Only 2 cases of wound-induced hair neogenesis in humans have been reported. As monotherapy for AGA, 1 of 3 studies of microneedling, 4 of 6 of fractional lasers, and 2 of 3 studies of scalp threading show good efficacy.
Certain types of wounds seem to stimulate localized hair growth in humans, but the underlying mechanism is unclear. Reports on wound-induced HF neogenesis in humans are anecdotal and questions remain as to whether this is a true phenomenon in humans. Further clinical studies are needed before recommending wound-induced hair growth procedures as therapies for AGA.

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