Ectodermal Dysplasia Presenting as Heat Exhaustion in an Adolescent Boy.

Ectodermal dysplasia (ED) is a rare heterogenous group of ectodermal disorder, which primarily affects skin, hair, nails, eccrine glands, and teeth. Hypohidrotic ED is characterized by hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital decrease in the number of teeth /anodontia - complete absence of teeth). Primary care physicians and dentists play a crucial role in the early diagnosis and subsequent follow ups. A careful and thorough examination of these patients will lead to accurate diagnosis. Timely involvement of a multidisciplinary team in their care including the child psychologist, dermatologist, otorhinolaryngologist, and speech therapist would avoid fatal complications and improve the overall quality of life.  In this article, we report that ED is a chronic underdiagnosed condition and can have devastating long-term complications. This is significant because with early diagnosis and prompt education of parents, patients can have better outcome in the prevention and timely management of complications such as heat exhaustion, electrolyte imbalance, heat stroke, and severe dehydration. Our case report would help clinicians familiarize with this rare condition to improve clinical acumen and better the patient outcome.

Penile Nodule: What's Your Diagnosis?

Smegma pearls can cause diagnostic dilemmas for pediatricians who are unfamiliar with this condition leading to unnecessary investigations and referrals. Despite the common occurrence of smegma pearls in uncircumcised young boys, it is not often reported in the literature. Smegma is a normal secretion consisting of desquamated epithelial cells, fat, and protein. It has mixed bacterial flora with smegma bacillus in 50% of cases. Smegma itself is neither damaging nor irritating substance and as Howe has stated, it is not carcinogenic also. Smegma production and keratinization of cells facilitate the separation of the fused foreskin from the glans epithelium. we are presenting a case of a penile nodule in the shaft of the penis without any pain, bleeding, or discharge. The smegma content gives a yellowish color to the lump. Smegma pearls do not have any covering sac. When the smegma is covered in a well-formed epithelial wall, it is called a smegma cyst. Long-standing smegma collection can turn into a hard stone-like structure called Smegmolith due to chronic irritation and mineral accumulation. Treatment should include monitoring for resolution with parental reassurance. Smegma pearls are benign, and they spontaneously resolve over time. This case report intends to help pediatricians correctly identify this benign, yet not widely published in the literature condition and reassure the parents and patients to improve the patient care and avoid unnecessary tests and referrals.