ABSTRACT
A healthy 12-month-old female presented with relapsing and remitting urticaria since birth that was resistant to treatment with antihistamines. A thorough history revealed extensive rheumatic disease on the father's side of the family, and subsequent genetic testing was positive for a missense variant of NLRP3, indicating cryopyrin-associated periodic fever syndrome (CAPS). CAPS encompasses a spectrum of diseases, all related to a defect in the same gene; manifestations vary in severity and presentation, but most are associated with recurrent rash and fever. Because the patient's only presenting symptom was rash, this case highlights the importance of having a high index of suspicion for cryopyrin-associated periodic fever syndrome in infants with persistent, early urticaria.
Subject(s)
Cryopyrin-Associated Periodic Syndromes , Exanthema , Urticaria , Infant , Humans , Female , NLR Family, Pyrin Domain-Containing 3 Protein/genetics , Mutation , Cryopyrin-Associated Periodic Syndromes/complications , Cryopyrin-Associated Periodic Syndromes/diagnosis , Cryopyrin-Associated Periodic Syndromes/drug therapy , Fever , Urticaria/diagnosis , Urticaria/drug therapy , Urticaria/etiologySubject(s)
Extremities , Vascular Malformations , Male , Humans , Vascular Malformations/diagnosis , Capillaries/abnormalitiesABSTRACT
An angiokeratoma is a benign vascular lesion that appears as one or more red to black papules with a verrucous surface. Histologically, it is defined by ectatic, thin-walled vessels in the papillary dermis, acanthosis with elongated rete ridges, and compact hyperkeratosis. Solitary angiokeratoma is one of five defined subtypes of angiokeratoma. We report the case of an 18-year-old woman with a "wart" that had been present for many years. After treatment with several over-the-counter wart therapies, several rounds of paring plus cryotherapy, and Candida antigen injections failed, a shave biopsy was taken to remove the lesion, and histopathologic examination was consistent with an angiokeratoma. This case demonstrates the importance of considering angiokeratoma in the differential diagnosis of a wart, particularly one recalcitrant to treatment.
ABSTRACT
Atrichia with papular lesions (APL) is a rare form of alopecia characterized by the diffuse, complete, irreversible loss of hair shortly after birth and the presence of diffuse keratotic papules and milia-like cysts. Multiple hairless gene (HR) mutations on the zinc finger domain of chromosome 8p12 have been associated with this disorder. We present the case of a 5-year-old girl with classic clinical findings of APL, with a diagnosis confirmed via genetic testing.
ABSTRACT
Primary cutaneous acral CD8+ T-cell lymphoma (PCACTL) is currently a provisional entity defined as a rare cutaneous proliferation of atypical CD8+ lymphocytes that preferentially involves acral sites and has a good prognosis. We present a case of primary cutaneous CD8+ T-cell lymphoma involving the eyelid of an adolescent male. The case shares features with PCACTL, including indolent clinical behavior and expression of CD68 in a Golgi-associated dot-like pattern; however, other features differ significantly from PCACTL as currently defined by the World Health Organization (WHO). These features include ulceration, expression of CD56, granzyme B, and perforin, and a high proliferative index. Given these discrepancies, our case is currently best classified as a CD8+ primary cutaneous peripheral T-cell lymphoma, not otherwise specified. We review the differential diagnosis for this case and suggest expanding the definition of PCACTL.
