Syphilis is a worldwide chronic systemic sexually transmitted infection caused by the spirochete bacterium Treponema pallidum. Here, we report a 28-year-old homosexual male who presented to the dermatology clinic with a six-month history of asymptomatic persistent skin lesions. A review of systems revealed unintentional weight loss of about 40 kg within one year. Skin examination revealed multiple scaly and non-scaly hyperpigmented macules and patches on the palms and soles. Hair, nail, and mucus membrane examinations were normal. There was no lymphadenopathy. A skin biopsy revealed psoriasiform acanthosis, lichenoid infiltrates with moderately dense mononuclear lymphohistiocytic cells, few plasma cells, and eosinophils. Laboratory investigations revealed positive rapid plasma reagin (RPR) with a titer of 1:128. Treponema pallidum hemagglutination test (TPHA) was positive. The HIV test by western blot was positive. Based on the above clinicopathological and laboratory findings, a diagnosis of secondary syphilis was made in this patient, who also tested positive for HIV. He was given a single dose of penicillin G benzathine (2.4 units) intramuscularly. He was also started on Dolutegravir 50 mg tablet once daily and Tenofovir alafenamide fumarate + Emtricitabine tablet once daily. Three months after penicillin G benzathine treatment, the RPR test turned negative, and the skin lesions disappeared.
Spinal dysraphism (SD) refers to the abnormal fusion of dorsal midline structures during embryogenesis. It encompasses a variety of congenital spinal defects, ranging from an overt defect in which neural tissue is exposed with no overlying skin (open SD) such as myelomeningoceles to skin-covered malformations (closed or occult SD). A 13-year-old boy presented with recurrent multiple painless ulcers and erosions over the tips of the toes, mainly involving the right foot with hemorrhagic crusts for 5 years. A review of systems revealed back pain, urine incontinence, and numbness in his right knee. He was diagnosed with peripheral neuropathic ulcers and tethered cord syndrome secondary to SD and confirmed by MRI. He underwent cord detethering and lipoma resection as well as expectant therapy with satisfying outcomes. Physicians should consider early diagnosis of SD to avoid later neurological complications of SD (traction and/or pressure on the spinal cord) when infants are presented with such anomalies: MRI, close follow-up, and neurosurgical intervention may be recommended.
There are few reports of dupilumab-induced psoriasis recently published. Here, we present a case of a 50-year-old female with a three-month history of persistent itchy scalp lesions. She had an unremarkable past medical history except that she was diagnosed with prurigo nodularis (PN) three years ago and was on dupilumab treatment for one year. Skin examination revealed multiple silvery scaly plaques on her scalp. The examination of the nails and mucous membranes was normal; there were no skin lesions. Based on the above clinical findings, the patient was diagnosed with dupilumab-induced scalp psoriasis. Dupilumab was stopped. Anti-psoriasis treatment (0.05% betamethasone dipropionate-calcepitriol gel) was started and the patient showed improvement. She was put under periodic follow-up.
Diffuse capillary malformation with overgrowth (DCMO) is a rare condition that is characterized by capillary malformation and soft tissue hypertrophy. Here we report the case of a one-year-old male child with no past medical history who presented with skin lesions persistent since birth and associated with no symptoms. There were widespread non-scaly reticulated erythematous patches all over his body, including the abdominal wall. The circumference of the right calf and mid-thigh was 13 cm and 20 cm respectively whereas the circumference of the left calf and mid-thigh was 11 cm and 18 cm respectively. The length of both lower extremities was similar. There was also syndactyly of the right second and third toes. Differential diagnoses include cutis marmorata telangiectatica congenita (CMTC), DCMO, and macrocephaly-capillary malformation (M-CM) syndrome. Based on clinical features, the patient was diagnosed with DCMO. He was put under follow-up by pediatric orthopedics for periodic monitoring of growth asymmetry.
Haber's syndrome is an autosomal dominant, rare genodermatosis characterized by photosensitive, persistent facial erythema associated with reticulated hyperpigmentation. We present a case of an eight-year-old healthy Saudi girl who presented with facial erythema and generalized reticulated hyperpigmentation. Systematic review and laboratory studies were unremarkable. Histopathological examination revealed hyperpigmentation of the basilar keratinocytes with mild digitated elongations of the rete ridges. The patient was diagnosed with early-onset clinical presentation of Haber's syndrome. In this report, Haber's syndrome is reviewed, and differential diagnoses of reticulated hyperpigmentation are discussed.
Acquired dermal macular hyperpigmentation (ADMH) is a term used to describe a group of diseases that are characterized by idiopathic macular dermal hypermelanosis. These skin conditions include erythema dyschromicum perstans, lichen planus pigmentosus, and pigmented contact dermatitis, also known as Riehl's melanosis. This case report involves a 55-year-old woman who was generally healthy but who had been experiencing asymptomatic, slowly progressive skin lesions for the previous four years. A thorough inspection of her skin revealed many non-scaly, pin-point follicular brown macules, which in some spots had coalesced into patches across her neck, chest, upper extremities, and back. Darier disease and Dowling-Degos disease were included in the differential diagnosis. The biopsies of the skin revealed follicular plugging. The dermis had pigment incontinence with melanophages and slight perivascular and perifollicular mononuclear cell infiltrates. The patient was diagnosed with a follicular form of ADMH. Patient's skin condition caused her concern. She was reassured and prescribed topical steroids 0.1% betamethasone valerate ointment application twice a day for two days per week (weekends) and 0.1% tacrolimus ointment application twice a day for five days per week for three months. She showed some improvement and was put under periodic follow-ups.
We report a 31-year-old female presented with a history of recurrent skin and oral lesions for 10 years. She brought a histopathology report confirming the diagnosis of pemphigus vulgaris (PV), which was found to be faked with no patient information and lacked letterhead. Skin and oral examination only reveal multiple linear upper lip erosions. We believed the patient had a preliminary diagnosis of PV, and we asked the patient to continue her medications. Based on the conflicting history and occurrence of contradictory issues, a diagnosis of dermatitis artefacta was made. The patient improved after four sessions of dialectical therapy.
A segmental pigmentation disorder (SPD) is a form of pigmentary mosaicism. SPD is a hypo- or hyperpigmented patch that has a segmental pattern. A 16-year-old male with an insignificant past medical history presented with symptomless, slowly progressive skin lesions since early childhood. Skin examination revealed well-demarcated, non-scaling, hypopigmented patches on the right upper extremity. A similar spot was located on his right shoulder. Wood's lamp examination showed no enhancement. Differential diagnoses included segmental pigmentation disorder and segmental vitiligo (SV). A skin biopsy was obtained, which revealed normal findings. Based on the above clinicopathological findings, a diagnosis of segmental pigmentation disorder was made. The patient did not receive any treatment but was reassured that he did not have vitiligo.
Acanthosis nigricans (AN) is a common chronic disorder that is characterized by velvety-like, hyperpigmented, hyperkeratotic plaques, typically in intertriginous areas. However, atypical presentations have been reported. Here we present a five-year-old boy presented with a one-year history of asymptomatic slowly progressing skin lesions. He is a known case of type 1 diabetes mellites on insulin treatment, otherwise healthy. The review of systems was unremarkable. No similar case was found in the family. Skin examination revealed multiple tiny non-scaly brownish papules on the medial aspects of the upper thighs, bilaterally. Differential diagnosis included skin tags, viral warts, and dermatosis papulose nigra (DPN). Dermoscopic findings revealed a velvety-like appearance on the papules and the normal skin surrounding the papules. A 2-mm punch skin biopsy of the papule revealed papillomatosis of the epidermis, and the granular layer was normal. The dermis was normal. On the basis of the above clinicopathological findings, specifically the velvety texture of the normal skin surrounding the papules, the patient was diagnosed with ANs. The parent was reassured, and we started the patient on daily tretinoin cream.
The febrile ulceronecrotic Mucha-Habermann disease is a rare and potentially lethal variant of pityriasis lichenoides et varioliformis acuta (PLEVA). It is characterized by a sudden onset of ulceronecrotic skin lesions associated with high fever and systemic symptoms. Herein, we report a 23-year-old male, not known to have any medical illnesses, presented with a month-long history of persistent fever of unknown origin associated with a sudden onset of progressive diffuse necrotic ulcers and widespread papulosquamous lesions. Pan CT showed enlarged lymph nodes in the cervix, chest, and abdomen. Unfortunately, a skin biopsy was done late, showing features consistent with PLEVA. Few days after admission, despite being on intravenous methylprednisolone, our patient rapidly deteriorated by showing severe acute respiratory symptoms and consequently died. In spite of the continuous addition of new case reports to the literature, no definite diagnostic criteria have been established, leading to late or missed cases, and an optimum treatment is still waiting.
Juvenile dermatomyositis (JDM) is a chronic autoimmune inflammatory disorder and is considered the most common form of idiopathic inflammatory myopathies. JDM primarily affects the skin and the skeletal muscles. Characteristic signs and symptoms include Gottron papules, heliotrope rash, calcinosis cutis, and symmetrical proximal muscle weakness. However, JDM presenting with generalized scaly poikeloderma is an unfamiliar presentation. Herein we report a 14-month-old female toddler presented with generalized progressive asymptomatic scaly mottled violaceous patches (poikilodermatous) that started when she was seven months old. Her lab results were unremarkable. She was diagnosed with poikilodermatous skin rash with a differential diagnosis of Amyopathic dermatomyositis, poikilodermatous genodermatosis, and patch-stage mycosis fungoides. She was prescribed moisturizer creams only. A year later, during a follow-up, she presented with a full picture of JDM, with a history of scaly poikilodermatous skin patches that became more widespread, frequent choking during oral intake, and not being able to stand and sit unsupported. Laboratory workup was significant for low WBC and hemoglobin counts, along with elevated CPK, LDH, ferritin, CRP, and ESR levels. MRI revealed the right anterior thigh and vastus lateralis subcutaneous edema. Therefore, the child was diagnosed and treated as a case of JDM.
Primary adrenal insufficiency (PAI), also known as Addison's disease (AD), is a condition resulting from adrenal gland diseases that lead to glucocorticoid and/or mineralocorticoid deficiency, in addition to androgen deficiency in females. Here, we report a 40-year-old male indoor worker with an insignificant past medical history who presented to the dermatology clinic with a history of asymptomatic, slowly progressive skin hyperpigmentation for the past three years. It was associated with fatigue and weight loss. Skin examination revealed diffuse, non-scaly hyperpigmented patches on his face, dorsae of the hands, and palms. Early morning cortisol and adrenocorticotropic hormone (ACTH) serum levels were 1.00 µg/dl (5.0-19.4 µg/dl) and 2000 pg/mL (7.2-63.3 pg/mL), respectively. Based on the above clinical and laboratory findings, a diagnosis of AD was made. The patient was started on the following medications for 14 days: hydrocortisone 20 mg in divided doses (15 mg am/5 mg pm) and fludrocortisone 0.1 mg once daily (od). On the second visit, the patient's symptoms (both the cutaneous hyperpigmentation and fatigue) significantly improved, but he was complaining of edema in both upper and lower limbs, so the dose of fludrocortisone was reduced to 0.05 mg od.
Halogenoderma (HD) is an uncommon dermatosis that develops following exposure to halogens such as iodide and bromide, referred to as iododerma and bromoderma, respectively. Here, we report the case of a 40-year-old male who presented with a three-week history of slightly itchy progressive skin lesions associated with low-grade fever and malaise. The patient had a history of using food supplements containing iodide and bromide for four months prior to the appearance of skin rashes. Skin examination revealed multiple crusted papules and nodules scattered on his face, neck, and trunk. A skin biopsy was taken from the lesions. The epidermis showed crustation, exocytosis of neutrophils, and multiple intraepidermal abscesses. The dermis showed heavy cellular infiltrates composed mainly of neutrophils. The skin lesions disappeared completely after the cessation of food supplements, along with the use of topical corticosteroids for a few weeks.
Pityriasis rubra pilaris (PRP) is a rare inflammatory papulosquamous skin disease that has six distinct types. Type 5 PRP is called atypical juvenile PRP. Here we report the case of a 17-year-old boy with insignificant past medical history presenting with a history of persistent slowly progressing very itchy skin lesions since the age of seven years. The lesions were photoaggravated. No similar cases in the family were observed and the parents were not consanguint. Skin examination revealed scaly erythematous patches, papules and plaques all over his body. There were also ichthyosiform-like scales covering the whole body. Hair, nails, and mucus membranes examinations were normal. A 4-mm punch skin biopsy was taken. The dermis revealed hyperkeratosis with checkerboard pattern of orthokeratosis and parakeratosis, the granular layer was preserved and acanthosis with thick and short rete ridges. The dermis showed mild perivascular lymphocytic infiltrates. On the basis of the above clinicopathological findings, the diagnosis of pityriasis rubra pilaris (atypical juvenile type) (type 5) was made. The patient was started on isotretinoin capsule 20 mg twice a day and placed under periodic follow-up.
Background: Hypotrichosis with Recurrent Skin Vesicles (HYPTSV) is an extremely rare condition, having autosomal recessive inheritance. Here in we report a 4-years- old Saudi boy who presented with a history of recurrent skin blisters that are localized to the extremities and hypotrichosis since birth. Methods: The present study describes a consanguineous Saudi family segregating HYPTSV in an autosomal recessive fashion. A single proband (II-1) exhibited features such as diffused non-scarring alopecia on the scalp, intraepidermal blister, post-inflammatory hyperpigmented macules, and follicular hyperkeratosis. DNA of the index was subjected to whole-genome sequencing (WGS). Furthermore, 3D protein modeling was performed for the mutated and normal protein. Results: WGS revealed a novel bi-allelic missense variant (c.154G>C; p. Val52Leu) in the DSC3 gene, which segregated perfectly using Sanger sequencing. In addition, 3D protein modeling revealed a substantial change in the mutated DSC3 protein as compared to the normal DSC3 protein. Conclusion: This is the 3rd novel variant reported in the DSC3 gene associated with the HYPTSV phenotype. This report further strengthens the evidence that bi-allelic variants in the DSC3 cause severe HYPTSV in humans.
Acquired dermal macular hyperpigmentation (ADMH) is a recently coined term to encompass lichen planus pigmentosus (LPP), erythema dyschromicum perstans (EDP), and Riehl's melanosis. Here we report a 60 -year- old female, with an insignificant past medical history, who presented to the dermatology clinic, with slightly itchy skin lesions on her body. The lesions were slowly increasing in number over the last 10 years. The patient was otherwise healthy and was not taking any medications. A review of systems was unremarkable. There was no similar case in the family and the parents did not show consanguinity. Skin examination revealed multiple well-defined non-scaly brownish macules scattered on her body. In addition, bilateral macules and papules were present in the inframammary folds. There were no skin lesions in the axillae, groin, and intergluteal folds. Differential diagnoses include Dowling Degos Disease (DDD), LPP, and EDP. A 4 mm punch skin biopsy was taken from skin lesions under the breast. It revealed hyperkeratosis, hypergranulosis, and acanthosis. The dermis showed a band-like infiltrate of mononuclear histiocytic cellular infiltrate with basal layer degeneration. According to the above clinicopathological findings, the diagnosis of lichen planus was made. The patient was reassured. She was started on hydroxychlorquine 200 mg tab bid, a topical steroid, and topical calcineurin inhibitors, and was asked to follow up regularly in the dermatology clinic.
Confluent and reticulated papillomatosis (CARP) of Gougerot and Carteaud is a rare chronic disease with exacerbation and remissions typically affecting young people. Classic clinical characteristics include asymptomatic scaly hyperpigmented macules, patches, and papules in the trunk's confluent and reticular pattern. A 12-year-old girl, otherwise healthy, presented with itchy, persistent skin lesions all over her body for one year. Skin examination revealed generalized scaly brownish patches, thin papules, and plaques all over her body, including her face, neck, middle of the chest, abdomen, back, upper extremities, elbows, lower extremities, and knees. Wood's lamp examination of her skin lesions was unrevealing. Skin biopsy showed papillomatosis, hyperkeratosis, acanthosis, and hypergranulosis. The dermis showed perivascular inflammatory cellular infiltrate. Based on the above clinicopathological findings, the patient was diagnosed with CARP. In our case, a generalized form was reported. CARP is diagnosed based on clinical and histopathological features. Oral antibiotics are the cornerstone of treatment. Our patient responded well to oral minocycline 85 mg one tablet daily, tacrolimus 0.1% ointment twice daily, and selenium sulfide shampoo twice weekly for two months. The classic clinical characteristics of CARP include asymptomatic scaly hyperpigmented macules, patches, and papules in a confluent and reticular pattern on the trunk. A generalized form, as in our case, has been reported. CARP is diagnosed based on clinical and histopathological features. Oral antibiotics are the cornerstone of treatment.
A dermoid cyst (DC) is a rare, benign congenital skin lesion that can occur anywhere on the skin and take any shape. DC is clinically diagnosed through imaging and biopsy. The usual treatment of choice for DC is surgical excision to prevent any local complications, such as inflammation, infection, and bone resorption. The type of surgery depends on the size, location, and extension of the cyst. When the cyst presents in certain areas, such as the nose, face, and scalp, surgery can be difficult owing to the possibility of an intracranial connection. Therefore, imaging is usually performed before intervening surgically. Here, we present the case of a two-year-old boy with no medical or surgical history who presented to our dermatology clinic with a slow-growing mass on his nose. During the consultation, the mass was examined, a complete medical history was obtained, and the patient was advised to undergo imaging, which revealed that the mass was a DC. Nevertheless, no deep connection was observed on imaging, and the mass was surgically removed without any complications.
Interstitial granulomatous drug reaction (IGDR) is a rare inflammatory reaction of the skin with an unknown etiology. Here, we report the case of a 55-year-old female with a history of diabetes mellitus and hypertension who presented with an asymptomatic persistent skin lesion over the left breast for more than one year. Skin examination revealed a single non-scaly, sharply demarcated, erythematous annular patch. Skin biopsy showed epidermal atrophy and histiocytic infiltrate throughout the entire dermis, both interstitial and perivascular. The patient was diagnosed with IGDR. We decided not to change her medications because her chronic diseases were well-controlled on these medications; her skin lesion was asymptomatic, very mild, and localized to a small body area; and, lastly, IGDR is not associated with any complications in the future.
Prurigo pigmentosa (PP) is an idiopathic cutaneous inflammatory disorder. Here we report a 50-year-old healthy male of Arabic descent who presented with a six-month history of very itchy persistent skin lesions on his back. Skin examination revealed multiple brownish non-scaly excoriated papules and patches in the midline of his lower back. The differential diagnosis includes lichen planus (LP), confluent and reticulated papillomatosis (CARP), and PP. Skin biopsy revealed acanthosis, spongiosis, and dyskeratotic keratinocytes in the epidermis. The dermis showed mild perivascular lymphocytic infiltrate. Based on the previous clinicopathological findings, the patient was diagnosed with PP. He was prescribed doxycycline 100 mg once daily (OD) for two months. Two months after treatment, all lesions disappeared completely. After one year at the follow-up, he presented with a recurrence of the same skin lesions at the same site. We restarted him on doxycycline treatment.
