Clinical and biochemical footprints of inherited metabolic diseases. VI. Metabolic dermatoses.

Cutaneous signs and symptoms may facilitate the diagnosis or can help in identifying complications or side effects of overtreatment of inherited metabolic diseases. The principal manifestations can be grouped into vascular lesions, ichthyosis, papular and nodular skin lesions, abnormal pigmentation, photosensitivity, skin laxity, hair shaft involvement, and nail abnormalities. We have summarized associations of these cutaneous signs and symptoms in 252 inherited metabolic diseases. This represents the sixth of a series of articles attempting to create and maintain a comprehensive list of clinical and metabolic differential diagnoses according to system involvement.

Urticarial rash, fever, and arthritis: A case of refractory Adult-onset Still's disease with good response to tocilizumab.

Adult-onset Still's disease (AOSD) is a rare, systemic inflammatory disorder of not completely understood etiology. Aberrant activation of the innate immune system and overproduction of several pro-inflammatory mediators are considered a critical component in disease pathogenesis. AOSD still poses a challenge due to the broad range of differential diagnoses and no specific biomarkers. Four cardinal symptoms are quotidian spiking fever, joint involvement, evanescent salmon pink-rash rash, and leukocytosis with neutrophilia. We present a case of a 61-year-old female with a recurrent urticarial rash accompanied by attacks of high fever, tender joints, sore throat, enlarged liver, elevated inflammatory reactants, and hyperferritinemia. After an extensive workup, the patient fulfilled the criteria of AOSD. She was refractory to the glucocorticosteroids and disease-modifying anti-rheumatic drugs (DMARDs). Finally, after several unsuccessful attempts to achieve disease control with traditional DMAR's administration of Tocilizumab (TCZ), a humanized anti-IL-6 receptor antagonist resulted in substantial disease improvement. Since skin manifestations are a common feature of AOSD, it should be among differential diagnoses in patients with skin lesions and constitutional symptoms. Biologic agents represent a significant therapeutic advance in patients with AOSD refractory to conventional therapy.

Benzathine Penicillin G Shortage and Secondary Syphilis.

Syphilis is a sexually transmitted infection caused by the bacterium Treponema pallidum. This disease is characterized by four different stages, each presenting with a variety of manifestations or asymptomatic disease. These stages can be further broken down into early-stage syphilis, which includes primary and secondary syphilis, and late-stage syphilis, which includes tertiary syphilis. It is crucial to recognize and treat syphilis early because the later stages of the disease are marked by irreversible damage to the central nervous system (CNS) and cardiovascular system, and can even increase mortality risk. The primary recommended treatment for early-stage syphilis is intramuscular (IM) benzathine penicillin G (BPG). In this case report, we present a patient with secondary syphilis who exhibited red papules and nonspecific skin eruptions. Due to the unavailability of BPG, the patient initially received doxycycline as an alternative treatment. After eight days of searching multiple facilities and pharmacies, a dose of BPG was finally located and administered to the patient. We highlight crucial information about the BPG shortage, including supply and demand challenges, infrastructure issues, and the broader impact on numerous other antimicrobials. We emphasize the importance of recognizing this issue and provide alternatives for managing the disease in resource-limited settings.

Generalized Pustular Psoriasis, Acute Generalized Exanthematous Pustulosis, and Other Pustular Reactions: A Clinical Review.

Generalized pustular rashes have various etiologies and can be challenging to diagnose and manage at first presentation. The authors provide an in-depth analysis of common pustular skin eruptions including generalized pustular psoriasis (GPP) and acute generalized exanthematous pustulosis, focusing on their pathophysiology, triggers, clinical presentation, diagnostic challenges, and management strategies. The article also highlights recent advances in genetic research and biologic therapies for GPP and the future directions in personalized medicine and prevention strategies.

A Difficult-To-Diagnose Case of American Tegumentary Leishmaniasis.

This case report presents a difficult-to-diagnose case of American tegumentary leishmaniasis (ATL) caused by Leishmania (Viannia) guyanensis in a 24-year-old Hispanic male with a travel history to the Panama jungle, an endemic region for tropical infectious diseases. The patient initially presented with persistent skin lesions that progressed to abscesses with ulceration. Despite negative initial diagnostic tests, including microbiological investigations and histopathological examination, a comprehensive diagnostic workup and subsequent polymerase chain reaction (PCR) confirmed the presence of Leishmania parasites. This case underscores the need to consider tropical infectious diseases despite initial negative tests. Accurate species identification is vital for proper drug treatment, with miltefosine as an emerging option. Early, precise diagnosis and tailored management are essential for successful treatment. This report emphasizes the significance of conducting a comprehensive diagnostic workup, including PCR, in individuals with a history of travel to endemic regions, to accurately diagnose and effectively manage complex infectious diseases.

Efficacy of granulocyte and monocyte adsorption apheresis for treatment of palmoplantar pustulosis.

Palmoplantar pustulosis (PPP) is characterized by neutrophilic pustules with erythema, which are limited to the hands and feet. Although granulocyte and monocyte adsorption apheresis (GMA) has shown remarkable effects on generalized pustular psoriasis, there are few reports of PPP treated with GMA. We treated three refractory PPP patients using GMA weekly for 5 weeks. The skin eruptions were assessed by a 5-grade score for scales, pustules, and erythema. GMA decreased the total grade from 9 to 2 in patients 1 and 2, and from 7 to 3 in patient 3. The GMA effects were estimated to be excellent in all three patients. Pustule formation and pain disappeared in all cases. The treatment effect lasted for at least 5 months after GMA. GMA was also effective for relieving the arthralgia in one patient, but it recurred at 6 weeks. Based on these findings, GMA could be an effective therapy for refractory PPP.

A rare case of mucopolysaccharidosis: Hunter syndrome.

We report a rare case of Hunter syndrome-mucopolysaccharidosis type II (MPS II) with atypical presentation of mild mental retardation, acrocephalic head without corneal clouding, and multiple skin eruptions along with oral, dental, and radiographic findings. It is a rare syndrome with a very low prevalence of 1:100,000 births and as such the clinician should be aware of this syndrome.

Three Cases of Atypical Skin Eruptions in Leukemias

We report three cases of atypical skin eruptions in leukemias presenting as scrotal ulcers, herpes simplex and urticaria pigmentosa that are unique in their morphology and site of presentation. Therefore any skin lesion that develops in patients with leukemia should be examined by biopsy.

Atypical Papulonecrotic Skin Manifestation by Lepromatous Leprosy

Leprosy is a multisystemic infectious disease showing various cutaneous manifestations by the reaction between Mycobacterium leprae (M. leprae) and host immunity. We de-scribe a 20-year-old woman with clinical multiple papulonecrotic skin eruptions resembling papulonecrotic tuberculid (PNT) and pityriasis lichenoides et varioliformis acuta (PLEVA). This kind of skin eruption is a new manifestation which has not been reported so far in lepromatous leprosy (LL).