Rickets in association with skin diseases and conditions: A review with emphasis on screening and prevention.

BACKGROUND: Rickets is a common disease worldwide. In the developed world, its prevalence dramatically decreased but still diagnosed in at-risk populations. The skin plays a critical role in vitamin D synthesis. Therefore, several skin diseases, especially keratinization disorders, could lead to impaired vitamin D metabolism and vitamin D deficient rickets. OBJECTIVE: The article aimed to summarize the current knowledge of skin diseases and conditions associated with rickets. METHODS: To examine the association between rickets and skin diseases, we performed a systematic review of the literature using PubMed database. The search included studies published from the database inception to August 2019. RESULTS: A total number of 75 articles were included. Identified conditions associated with rickets were ichthyosis being a more common skin diseases, alopecia, epidermal and melanocytic nevi, xeroderma pigmentosum, mastocytosis, psoriasis, and atopic dermatitis. Three types of rickets were identified: vitamin D-dependent rickets, hypocalcemic vitamin D-dependent rickets type 2, and hypophosphatemic rickets. Cutaneous skeletal hypophosphatemia syndrome is a newly described and under-recognized condition. It is defined by the association of epidermal or melanocytic nevi, hypophosphatemic rickets, and elevated levels of fibroblast growth factor 23. Rickets in patients with ichthyosis was mainly due to impaired ability of ichthyotic skin to synthesize vitamin D, poor UV penetration of the skin caused by keratinocyte proliferation, and dark phototype. The latter may be considered a risk factor for rickets in patients with ichthyosis. CONCLUSION: Despite its rarity, these associations should be properly recognized by dermatologists. Early diagnosis of rickets is important to prevent growth retardation and skeletal deformities.

Cutis verticis gyrata: Three cases illustrating three different etiologies.

Cutis Vertcis gyrata is an uncommon neurocutaneous syndrome characterized by excessive growth of the skin of the scalp or the face, forming folds of similar aspect to cerebral cortex gyri. Three categories have been individualized: the primary form, essential or non-essential, and the secondary form.

Multiple keratoacanthomas of Ferguson-Smith type.

We report a case of a 41-year-old male patient with no family history, presented with extensive multiple keratoacanthomas with disfiguring scars. The diagnosis of a sporadic form of Ferguson-Smith syndrome was made. Treatment with acitretin showed a marked response. Recognizing this syndrome is crucial. Early treatment helps avoid scar formation.

Koilonychia in a Patient with Alopecia Areata.

Alopecia areata (AA) is an autoimmune disease that affects the hair follicles and leads to nonscarring alopecia. Nails changes are a common manifestation in AA, with an average prevalence of 30 percent. Both nail changes and hair loss in AA are associated with lymphocytic inflammation and are thought to be a result of a loss of immune privilege in both hair follicle and nail apparatus. Koilonychia, or "spoon nails," is a nail dystrophy where the nail plate is depressed centrally and everted laterally. Causes of nail spooning are various, but koilonychia is usually associated with iron deficiency and inflammatory dermatoses, such as psoriasis and lichen planus. Koilonychia is very rarely reported in association with AA in the English literature and its prognostic significance is still unknown. We report a case of a 25-year-old female patient who presented with AA focalis and koilonychia that regressed almost completely after oral corticosteroids, with an accompanying discussion of the pathogenesis and prognostic value of koilonychia.

Maintenance Phototherapy for the Treatment of Early-stage Mycosis Fungoides.

Mycosis fungoides (MF) is the most common type of cutaneous T cell lymphoma. Phototherapy is a first-line treatment option of early stages MF. The present study aimed at assessing the efficacy of phototherapy in Tunisian patients with MF treated with phototherapy and evaluate the efficacy of maintenance phase.

Chronic macrocheilia: a clinico-etiological series of 47 cases.

BACKGROUND: Macrocheilia is an inflammatory disfiguring condition responsible for the swelling of the lips. This multi-etiological entity represents a diagnostic and therapeutic challenge. Published data on macrocheilia is scarce, often limited to granulomatous cheilitis. METHODS: We conducted a retrospective study, including all patients presenting with chronic macrocheilia (CM) for nineteen years. CM was defined as a persistent enlargement of one or both lips for at least eight weeks. Both descriptive and analytical analyses were performed. RESULTS: Of the 47 patients identified, 20 (43%) had cutaneous leishmaniasis, 10 (21%) had Miescher's cheilitis, five (11%) had Melkersson-Rosenthal syndrome, five (11%) had sarcoidosis, one (2%) had lepromatous leprosy, one (2%) had systemic amyloidosis, and one (2%) had Crohn's disease. In four cases, the CM was unlabeled. Ulcerations were significantly associated with leishmaniasis (P < 0.05). Histological study showed a granulomatous infiltrate in 72% of cases. Medical treatment was adapted to the etiology of CM. Surgery was performed in two cases. Improvement of CM secondary to leishmaniasis was seen in all cases. In patients with idiopathic orofacial granulomatosis, partial improvement was noted in four cases and a total improvement in one case. Recurrences were noted in three cases after complete regression. CONCLUSIONS: Macrocheilia is a rare and disfiguring condition that requires an etiological investigation, considering that it can reveal a serious underlying systemic disease. We identified several factors that could help recognize the cause of CM, including age, history of intermittent swelling, the extent of lip enlargement, the existence of ulceration, and systemic symptoms.

Dermoscopic features of mucosal lichen planus.

BACKGROUND: Lichen planus (LP) is a chronic inflammatory dermatosis that affects the skin and the mucous membranes. The literature on the dermoscopic aspects of mucosal LP is still scarce. This study aimed to describe the dermoscopic aspects of mucosal LP and to provide a comprehensive updated summary of the literature. METHODS: This was a cross-sectional, multicenter study conducted in Charles Nicolle, La Rabta, and Habib Thameur hospitals from December 2019 to October 2020. We included patients with histologically confirmed mucosal LP for whom a dermoscopic examination was performed. RESULTS: Twenty-seven patients were enrolled. The main dermoscopic structures observed were as follows: Wickham's striae (WS) (91%), vessels (88%), pigmentated structures (41%), erosions (63%), scales (34%), and blunting of lingual papillae (3.1%). WS patterns were as follows: reticular (67%), radial (48%), annular (30%), globular (15%), dotted/starry sky (15%), and veil-like blue or grey-white homogenous pattern (19%). Vascular structures were as follows: linear (85%), dotted (70%), looped (22%), and peripheral sea anemone-like vessels (37%). These vessels were distributed in a radial arrangement at the periphery of the lesions in 67% of the cases. Pigmented structures included brown/blue globules (33%), grey-blue dots (30%), and brown dots (26%). CONCLUSION: Dermoscopic features of mucosal LP are varied. WS is the hallmark of LP. The distribution and aspects of WS in mucosal LP were slightly different from those described in cutaneous LP. Physicians should be aware of these dermoscopic features that could help differentiate LP from other mucosal inflammatory diseases.

Intradermal tranexamic acid microinjections: a novel treatment option for erythematotelangiectatic rosacea.

BACKGROUND: Treatment options for erythematotelangiectatic rosacea (ETR) are still scarce. Tranexamic acid (TXA) is an antifibrinolytic drug that was recently used for the treatment of ETR. AIMS: To evaluate the efficacy and safety of intradermal microinjections of TXA for ETR. PATIENTS/METHODS: This was a retrospective study enrolling patients, treated with TXA intradermal microinjections for ETR, from January 2019 to February 2020. Response to treatment was assessed based on subjective symptoms, clinical photographs, and the Investigator Global Assessment of Rosacea Severity Score (IGA-RSS). RESULTS: Six patients were included. The mean number of monthly intradermal TXA microinjections was 5.1 ± 1.3. The mean decrease of IGA-RSS was 2.4 ± 0.5. Local side effects, mainly transient erythema and swelling, were noticed in three cases. No systemic effects were noted. Clinical improvement, in respondent patients, lasted after 3 months of follow-up. CONCLUSION: Intradermal TXA microinjections are a safe and effective treatment option for ETR. The optimal number of monthly sessions has yet to be determined.

Dermoscopic features of lupus miliaris disseminatus faciei: Distinct aspects depending on disease stage.

Dermoscopy is a useful tool that helps distinguish lupus miliaris disseminatus faciei (LPDF) from sarcoidosis and tuberculosis. Follicular keratotic plugs (FKP) represent the hallmark of LPDF. Dermoscopic aspect of LPDF changes through the course of the disease.

Subcutaneous Panniculitis-Like T-Cell Lymphoma Presenting with Full Facial Edema and Hemophagocytic Syndrome.

A 42-year-old previously healthy woman presented with a 2-month history of recurrent fever and painful swelling on the left thigh. She was given a presumptive diagnosis of cellulitis and an antimicrobial. Because the response was not significant and fever remained moderate to high grade, with the appearance of gradually increasing periorbital edema (Figure 1), the diagnosis was reconsidered, and she was referred to a tertiary referral center for further study.