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.

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.

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.

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.