Tricho-rhino-phalangeal syndrome - clinical, trichoscopic and radiological images

otentially, lupus erythematosus, systemic sclerosis, and emphigus vulgaris.4 Although most patients with indolent or controlled CTCLs re not predisposed to viral infections, conditions at risk for nfection and severe symptoms of COVID-19 are considered: ggressive or advanced CTCLs, ongoing immunosuppresive therapy, lymphopenia, chronic organ failure, coexisting omorbidities, advanced age.2 This unprecedented report of previously controlled MF, ith exuberant and sudden cutaneous recurrence after ARS-CoV-2 infection, indicates viral immunogenic mechnisms as potential triggers of immune dysregulation in TCLs.


Dear Editor,
Tricho-rhino-phalangeal syndrome (TRPS) type I is a rare condition first described by Giedion in 1966. The main characteristics are sparse and slow-growing hair, a pear-shaped nose and coned epiphyses on the medial phalanges of the hands. The hair shafts are thin and miniaturized, as in androgenetic alopecia. There is a down-regulation of the TRPS1 gene in the baldness area, and the decrease of the same pro-ଝ Study conducted at the Hospital e Maternidade Dr. Celso Pierro, Pontifícia Universidade Católica de Campinas, Campinas, SP, Brazil. tein can impair endochondral cartilage differentiation and cell interactions in the development of hair follicles. 1 Short stature, Legg-Calve-Perthes Disease (aseptic necrosis of the femoral head), shortening of the toes (clinobrachydactyly), dystrophic nails, long philtrum, thin upper lip, and thinning of the distal third of the eyebrows may occur. 1,2 TRPS type I often shows an autosomal dominant pattern inheritance, but autosomal recessive inheritance can occur. Type II occurs sporadically, associated with mental retardation and multiple exostoses. 2 The aim of this study is to report the investigation of a case of TRPS in an eleven-year-old girl with mechanical arthralgia in the knees for three years, without morning stiffness, she presented also shortening of the toes and ulnar deviation of the second, third and fifth fingers, bilateral osteochondromas in the supracondylar region, hair rarefaction, and three episodes of convulsive crisis. The neuropsychomotor development was normal. Parents were non-consanguineous and there was no history of repeated abortions. Regarding family history, the father is being treated for epilepsy, and siblings do not have any signs suggestive of genetic syndromes.
On physical examination, bilateral hypermobility and deformity of the interphalangeal joints, thickening of the wrists, thinning of the skull, collapse of the nasal bridge, thin upper lip, pear-shaped nose (Fig. 1), and high-arched palate were observed. The thorax was short, with a winged scapula. The weight was 29.6 kg, height 141.5 cm (normal and age-appropriate weight and height), with Tanner stage M2P1, menarche at age 11. Trichology showed fine short hair; and diffuse hair rarefaction, more evident in the bitemporal region (Fig. 1C). The pull and tug tests were negative. Analysis of the hair strands under optical microscopy was carried out and the trichogram disclosed normal hair shafts ( Fig. 2A). At the highest magnification, normal telogen hairs were disclosed (Fig. 2B). Trichoscopy was normal, but showed fine hairs, corresponding to hypotrichosis (Fig. 2C).
The cranial tomography showed no changes. The knee radiography revealed a well-defined sclerotic lesion along the medial cortex of the distal diaphysis of the right femur. The patient is undergoing clinical follow-up with the Orthopedics team. The hand radiography showed a widening of the base of the middle phalanx from the second to fifth fingers, bilaterally (Fig. 3). The ophthalmologic study and the transthoracic echocardiogram were normal. Of the serolog-ical tests, only ANA was positive, with a titer of 1:80 and a speckled nuclear pattern.
The diagnosis of TRPS type I is attained through typical clinical findings (facial features, ectodermal manifestations such as alopecia, supernumerary teeth, and limb anomalies) and radiographic findings of coned epiphyses, or the identification of a heterozygous pathogenic variant of TRPS1. For type II, the diagnosis is attained through typical findings of TRPS II and a contiguous chromosome 8 deletion that includes the genes TRPS1, RAD21 or EXT1. 3 Molecular genetic testing is of greater value if the presentation is mild or atypical, otherwise, they are not always necessary for the diagnosis. 4 Treatment includes supportive measures from a multidisciplinary team (orthopedics, physical therapy, psychology, and medical genetics). 4 Seizures have been described exclusively in association with KCNQ3 deletion, in addition to TRPS1 and EXT1 in type II. 5

Financial support
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Authors' contributions
Evelyn Freitas Rodrigues: Statistical analysis; approval of the final version of the manuscript, design and planning of the study; drafting and editing of the manuscript; collection, analysis, and interpretation of data; effective participa-  Lisa Gava Baeninger: Statistical Analysis; approval of the final version of the manuscript; design and planning of the study; drafting and editing of the manuscript; collection, analysis, and interpretation of data; effective participation in research orientation; intellectual participation in the propaedeutic and/or therapeutic conduct of the stud-ied cases; critical review of the literature; critical review of the manuscript.
Caroline Romanelli: Statistical analysis; approval of the final version of the manuscript; design and planning of the study; drafting and editing of the manuscript; collection, analysis, and interpretation of data; effective participation in research orientation; intellectual participation in the propaedeutic and/or therapeutic conduct of the studied cases; critical review of the literature; critical review of the manuscript.

Dear Editor,
Vitiligo is a skin condition in which the pigment melanin is lost from areas of otherwise normal skin. It may be associated with atopic dermatitis (AD) due to the presence of abnormal inflammatory response. 1 We report two cases of association between AD and vitiligo before 12 years of age.

Case 1
An otherwise healthy 11-year-old girl affected by AD since the age of 2 years, was treated with topical corticosteroids and emollients with good results, later on presenting irregularly hypopigmented areas on the sites that were previously involved by AD (Fig. 1). Similar lesions appeared on other flexural sites and on the face, especially the perioral area. The girl had a familiar history of Hashimoto's thyroiditis. On clinical examination, the areas were characterized by small macules with clean edges, irregular distribution, and different degrees of hypo-or de-pigmentation. All lesions had appeared after healing of AD lesions, on the same sites. Moreover, no hypopigmented macules occurred outside areas previously affected by AD. Wood's lamp examination on hypopigmented macules of the antecubital fossae confirmed the diagnosis of vitiligo (Fig. 2).
It showed sharply demarcated emission of bright bluewhite fluorescence (Fig. 2), suggesting a diagnosis of vitiligo.