Congenital dermal melanocytosis (DM) represents a common birthmark mainly found in children of Asian and darker skin phototype descent, clinically characterized by an oval blue-grey macule or macules, commonly located on the lumbosacral area. In rare DM cases, when presenting with diffuse macules persisting during the first years of life, it could represent a cutaneous feature of mucopolysaccharidoses (MPS). Extensive congenital DM is actually associated with Hurler syndrome (MPS type I) and Hunter syndrome (MPS type II), although several reports also described this association with MPS type VI and other lysosomal storage disorders (LySD), including GM1 gangliosidosis, mucolipidosis, Sandhoff disease, and Niemann-Pick disease. Here, we present the case of a two-year-old boy presenting with extensive dermal melanocytosis, generalized hypertrichosis, and chronic itch, harboring a heterozygous variant of uncertain significance, NM_152419.3: c.493C>T (p.Pro165Ser), in the exon 4 of HGSNAT gene, whose mutations are classically associated with MPS IIIC, also known as Sanfilippo syndrome. This is the first report that highlights the association between extensive congenital DM and MPS type IIIC, as well as a pathogenetic link between heterozygous LySD carrier status and congenital DM. We speculate that some cases of extensive congenital DM could be related to heterozygous LySD carriers, as a manifestation of a mild clinical phenotype.

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.

Acquired hypertrichosis can occur in local inflammation. Erythema nodosum (EN) is a hypersensitivity reaction to various underlying antigenic stimuli including Mycobacterium tuberculosis, which causes inflammation in the septa of subcutaneous fat. There were several case reports that describe the association of localized hypertrichosis (LH) with traumatic panniculitis and lupus panniculitis. To our knowledge, this is the first reported case of acquired LH associated with EN. Thus, EN can be added to the list of causes of localized hypertrichosis.

Becker\'s naevus also known as Becker\'s melanosis (BM) or pigmented hairy epidermal naevus is a cutaneous hamartoma with brown hyperpigmentation and hypertrichosis. It commonly occurs during adolescence and rarely at birth. It usually affects young post-pubertal males and has a prevalence of 0.5%. A naevus usually consists of a circumscribed, unilateral, irregularly shaped, hyperpigmented spot usually located around the anterior upper body, with or without hypertrichosis and/or acneiform lesions. Sometimes developmental abnormalities can occur with Becker\'s naevus, which is called Becker\'s naevus syndrome (BNS). Becker\'s naevus was of atypical presentation in two patients over the forearm and leg. Hence, these case reports gain importance.

Oliver-McFarlane syndrome is a rare genetic disorder characterized by long eyelashes, choroidoretinal atrophy, and multiple pituitary hormone deficiencies. The patient in this case is a 29-year-old female who has suffered from night blindness, low vision, and long eyelashes since childhood. Through genetic sequencing, she was diagnosed with compound heterozygous variaton in the PNPLA6 gene, indicating Oliver-McFarlane syndrome based on her comprehensive clinical presentation.
Oliver-McFarlane综合征是一种罕见的遗传病，以长睫毛、脉络膜视网膜萎缩和多种垂体激素缺乏为特征性改变。本例患者女性，29岁，自幼夜盲、视力低下、长睫毛，经基因测序检出PNPLA6基因复合杂合变异，综合临床表现诊断为Oliver-McFarlane综合征。.

Kindler syndrome is a rare autosomal recessive inherited disease. The authors report a case with unique presentation that has never reported before in the medical Literatur\" lanugo hair\". This is a case of a 13-year-old Syrian child, who presented with difuse fine face hair, and serious urinary complications. Kindler syndrome is characterized by acral skin blistering beginning at birth, diffuse cutaneous atrophy, photosensitivity, poikiloderma, and various mucosal findings. Highlighting a set of clinical diagnostic criteria; which is used only if a genetic test is not available.

Wiedemann-Steiner综合征（WSS）是由KMT2A基因突变导致的，以智力障碍、多毛、身材矮小、面容异常为特征的罕见遗传病。本文报道1例因闭经、多毛至内分泌科就诊患者，最后诊断为WSS，并回顾复习相关文献。该患者携带1个未报道过的KMT2A突变位点，同时存在下丘脑性闭经、垂体微腺瘤和肾上腺腺瘤，拓展了KMT2A突变相关的WSS临床表型。.

Hypertrichosis is a condition characterized by the presence of an abnormal increase in the number of hairs and either occurs in a localized pattern or a generalized pattern. Localized hypertrichosis around a healing wound is an infrequent postsurgical complication. A 60-year-old Asian man came for a consultation because of an increase in the amount of hair around his 2-month postsurgical wound of right knee arthroplasty. Neither history of topical medications nor systemic medications, which can cause hypertrichosis, were presented. A diagnosis of postsurgical hypertrichosis was made clinically without any laboratory investigations. The patient was reassured that the medication was not necessary and he was appointed for follow-ups. Within the next 4 months, the hypertrichosis resolved spontaneously without any treatment. The case demonstrates the correlation between wound healing and hair morphogenesis, especially as both processes involve some similar growth factors and signaling molecules. Further studies might lead to discovery and better management of hair disorders.

Cornelia de Lange Syndrome (CdLS) is a rare genetic disorder that affects many organs. The diagnosis of this condition is primarily clinical and it can be confirmed by molecular analysis of the genes known to cause this disease, although about 30% of CdLS patients are without a genetic diagnosis. Here we report clinical and genetic findings of a patient with CdLS type 4, a syndrome of which the clinical features of only 30 patients have been previously described in the literature. The index patient presented with clinical characteristics previously associated with CdLS type 4 (short nose, thick eyebrow, global development delay, synophrys, microcephaly, weight < 2DS, small hands, height < 2DS). She also presented cardiac anomalies, cleft palate and laryngomalacia, which was never described before. The index patient was diagnosed with a novel de novo RAD21 variant (c.1722_1723delTG, p.Gly575SerfsTer2): segregation analysis, bioinformatic analysis, population data and in silico structural modelling indicate the pathogenicity of the novel variant. This report summarizes previously reported clinical manifestations of CdLS type 4 but also highlights new clinical symptoms, which will aid correct counselling of future CdLS type 4 cases.

Poor recognition of subtle clinical abnormalities and equivocal ACTH concentrations make early diagnosis of PPID difficult. Progressive clinical findings and corresponding ACTH concentrations in horses transitioning to PPID over time have not been documented. Seven horses with ACTH concentrations equivocal for PPID (utilizing locally derived, seasonally adjusted diagnostic-cut off values (DCOV)) and no clinical signs of PPID were selected. Sequential measurement of basal and thyrotropin-releasing hormone (TRH)-stimulated ACTH concentrations and recording of clinical findings occurred from October 2017 to November 2021 in a prospective case series. In two horses, marked hypertrichosis developed. Although 1/11 basal ACTH concentrations were below DCOV in 2018, subsequently all basal ACTH concentrations in these two horses without treatment were greater than DCOV. One horse was treated with pergolide which normalized basal ACTH concentrations. Four horses developed intermittent, mild hypertrichosis, and one horse never developed hypertrichosis. Basal ACTH concentrations in these five horses were greater than DCOV in 63/133 (47.4%) of testing points. TRH-stimulated ACTH concentrations in these five horses were greater than DCOV in 77/133 (57.9%) of testing points, sometimes markedly increased and greater than the assay upper limit of detection (LoD) of 1250pg/mL. TRH-stimulated ACTH concentrations were most frequently positive in late summer and early autumn, with 24/37 (64.9%) of TRH-stimulated ACTH concentrations greater than the DCOV in February and March. Horses transitioning to PPID can have subtle clinical signs and equivocal ACTH concentrations. However, TRH-stimulated ACTH concentrations can be markedly greater than DCOV, especially in late summer and early autumn (February and March) allowing for identification of subclinical and transitional cases.